onexamination 2012 - genetics - ().pdf

ww.mymrcp.blogspot.com

(FACEBOOK) https//www.facebook.com/groups/mymrcp1/ [email protected]

My Profile Sign Out

Exam Revision Scores Community Help 1

Work Smart Work Hard Group Learning Saved Tests Revision Advice Tagged Questions

Work Smart Session - MRCP Part 1

A 15-year-old boy comes to the dermatology clinic as his parents are concerned about some changes theyhave noticed in his skin. He is from a travelling community, and as such his parents have previously shunnedmedical services.

On examination you notice that he has a number of facial and periungual fibromata. He also has a number ofhypomelanotic areas (at least four) on examination of his skin. You also notice gingival fibromata and pitting ofhis tooth enamel on examination of his mouth.

On which chromosome is the abnormality associated with this disease likely to be found?

(Please select 1 option)

Chromosome 2

Chromosome 6

Chromosome 9

Chromosome 11

Chromosome 12

Question: 1 of 10 Time taken: 00:13 Session Analysis

Score: 75%

Total Answered: 16

Tag Question

CorrectIncorrectPartially Correct

2012 BMJ Publishing Group Ltd . All rights reserved.Contact . Corporate . Terms and conditions & Privacy policy



Work Smart : REF55626

http://localhost/onexamination%208%202012/Genetics/1a.aspx[6/7/2013 4:49:24 PM]

My Profile Sign Out




A 15-year-old boy comes to the dermatology clinic as his parents are concerned about some changes theyhave noticed in his skin. He is from a travelling community, and as such his parents have previously shunnedmedical services.

On examination you notice that he has a number of facial and periungual fibromata. He also has a number ofhypomelanotic areas (at least four) on examination of his skin. You also notice gingival fibromata and pitting ofhis tooth enamel on examination of his mouth.

On which chromosome is the abnormality associated with this disease likely to be found?


Chromosome 2

Chromosome 6 Incorrect answer selected

Chromosome 9 This is the correct answer

Chromosome 11

Chromosome 12

This boy has tuberous sclerosis, which is inherited in autosomal dominant fashion, with responsible defectshaving been identified on both chromosome 9 and chromosome 16. These chromosomes carry codes forhamartin and tuberin, protein gene products which are responsible for regulation of cell growth.

Most of the tumours which are produced in tuberous sclerosis are hamartomas, and various phenotypes of thedisease occur, with some parents of patients having much more subtle features than those seen in theirchildren.

Question: 1 of 10 Time taken: 01:11

5%

23%

32%

28%

11%

1

2

3

4

5

Session Analysis

Score: 70.59%

Total Answered: 17

Remove Tag

Rate this question

Leave question feedback

Answer statistics

Times answered 2604

Web Book





http://localhost/onexamination%208%202012/Genetics/2.aspx[6/7/2013 4:49:33 PM]

My Profile Sign Out




You are reviewing the results of a clinical trial of a new agent for treating type 2 diabetes mellitus. There are anumber of analyses presented as part of the study.

Which of the following would be considered the most robust?


All patients who took one dose of medication

Intention to treat

One month completer

Per protocol

Trial completer


Score: 100%

Total Answered: 6

Tag Question







My Profile Sign Out




You are reviewing the results of a clinical trial of a new agent for treating type 2 diabetes mellitus. There are anumber of analyses presented as part of the study.

Which of the following would be considered the most robust?


All patients who took one dose of medication Incorrect answer selected

Intention to treat This is the correct answer

One month completer

Per protocol

Trial completer

The intention to treat (ITT) analysis contains all the patients randomised to a particular therapy regardless ofwhether they received it or not. ITT is considered to be the analysis which is least subject to bias.

Completer analyses, whether they took one dose of medication, one month of medication or completed thestudy, are subject to degrees of bias.

A per protocol analysis may exclude patients who suffered an event but then did not follow the protocolaccurately, for example, a patient treated with the diabetes agent who was admitted to hospital, but missed oneto two doses of medication.


8%

54%

5%

12%

22%

1

2

3

4

5

Session Analysis

Score: 85.71%

Total Answered: 7

Remove Tag

Rate this question


Answer statistics

Times answered 2837

Web Book






My Profile Sign Out




One of the scientists at your university claims to have discovered a new mutation screen which is useful for thediagnosis of a particular subtype of chronic myeloid leukaemia (CML).

The prevalence of this subtype is 10% of all cases of CML, and the test has a sensitivity of 100% with aspecificity of 97%.

Which of the following approximates most closely to the positive predictive value?


100%

97%

77%

27%

10%


Score: 85.71%

Total Answered: 7

Tag Question







My Profile Sign Out




One of the scientists at your university claims to have discovered a new mutation screen which is useful for thediagnosis of a particular subtype of chronic myeloid leukaemia (CML).

The prevalence of this subtype is 10% of all cases of CML, and the test has a sensitivity of 100% with aspecificity of 97%.

Which of the following approximates most closely to the positive predictive value?


100% Incorrect answer selected

97%

77% This is the correct answer

27%

10%

Out of every 100 patients screened with CML, you would expect 10 of them to have the particular subtype (truepositives). False positives will be 3/100.

The positive predictive value is the percentage of true positives out of total positives, which is10 / 13 = 77%.

The negative predictive value is the percentage of true negatives out of total negatives.


27%

40%

16%

6%

11%

1

2

3

4

5

Session Analysis

Score: 75%

Total Answered: 8

Remove Tag

Rate this question


Answer statistics

Times answered 3004

Web Book






My Profile Sign Out




A 23-year-old male is diagnosed with diabetes. He has frontal balding, and tells you that he has previouslybeen diagnosed with a cardiomyopathy.

Which of the following genetic phenomena is associated with this genetic condition?


Chromosome instability

Deletion

Epistasis

Microdeletion

Trinucleotide repeats


Score: 75%

Total Answered: 8

Tag Question







My Profile Sign Out




A 23-year-old male is diagnosed with diabetes. He has frontal balding, and tells you that he has previouslybeen diagnosed with a cardiomyopathy.

Which of the following genetic phenomena is associated with this genetic condition?


Chromosome instability

Deletion

Epistasis

Microdeletion

Trinucleotide repeats Correct

The suggestion here is that the patient has myotonic dystrophy.

Myotonic dystrophy is autosomal dominant and exhibits anticipation as the number of trinucleotide repeatsundergo triplet expansion, resulting in the disease presenting at a younger age, or with greater disease severityalong the generations.

Examples of chromosome instability syndromes are:

Fanconi anaemiaAtaxia telangiectasiaBloom syndrome.

Related Articles (BMJ)

Oesophageal atresia, VACTERL association: Fanconis anaemia related spectrum of anomalies --Perel et al. 78 (4): 375 -- Archives of Disease in Childhood Read article

Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalussyndrome -- Holden et al. 43 (9): 750 -- Journal of Medical Genetics Read article

A fair reason for failing to thrive -- Connor et al. 93 (2): 50 -- ADC - Education and Practice Read article


14%

15%

4%

17%

51%

1

2

3

4

5

Session Analysis

Score: 77.78%

Total Answered: 9

Tag Question

Rate this question


Answer statistics

Times answered 6368

Web(4) How the Fanconi AnemiaPathway Guards the Genome -Annual ...www.annualreviews.orgwww.annualreviews.org/doi/abs






My Profile Sign Out




Mutation in which of the following is associated with Ehlers-Danlos syndrome?


Collagen type 1 gene

FGFR3 gene

Fibrillin- gene

FMR-1 gene

Type II procollagen gene


Score: 77.78%

Total Answered: 9

Tag Question







My Profile Sign Out




Mutation in which of the following is associated with Ehlers-Danlos syndrome?


Collagen type 1 gene Correct

FGFR3 gene

Fibrillin- gene

FMR-1 gene


Mutations in the following genes cause Ehlers-Danlos syndrome:

ADAMTS2COL1A1COL1A2COL3A1COL5A1COL5A2PLOD1TNXB.

Ehlers-Danlos occurs in 1:5000 people worldwide.

In view of the wide number of mutations that can cause Ehlers-Danlos syndrome, this is a very heterogeneouscondition.

FGFR3 is implicated in achondroplasiaFibrillin gene in Marfan's syndrome andFMR-1 gene fragile X mental retardation 1.


Management of Marfan syndrome -- Dean 88 (1): 97 -- Heart Read article

An aortic dissection in a young weightlifter with non-Marfan fibrillinopathy -- Hogan 22 (4): 304 --Emergency Medicine Journal Read article

Evolving phenotype of Marfans syndrome -- Lipscomb et al. 76 (1): 41 -- Archives of Disease inChildhood Read article


45%

15%

13%

7%

19%

1

2

3

4

5

Session Analysis

Score: 80%

Total Answered: 10

Remove Tag

Rate this question


Answer statistics

Times answered 4879

Web(0) Book(4)






My Profile Sign Out




Mutation in which of the following is associated with Marfan's syndrome?




Fibrillin-1 gene

FMR-1 gene



Score: 80%

Total Answered: 10

Tag Question







My Profile Sign Out




Mutation in which of the following is associated with Marfan's syndrome?




Fibrillin-1 gene Correct

FMR-1 gene


Mutation in the fibrillin-1 gene is thought to be responsible for Marfan's syndrome.

In Marfan's syndrome the lack of normal fibrillin-1 leads to overactivity of transforming growth factor type beta(TGF-b) in the wall of the aorta and the heart valves, leading to damage and destruction to the connectivetissue which weakens that aortic wall and heart valves causing them to stretch.

Type 1 collagen gene defects are found in osteogenesis imperfecta and type 3 in Ehlers-Danlos syndrome.

Type II procollagen defect is found in hereditary spodyloarthropathy.


Management of Marfan syndrome -- Dean 88 (1): 97 -- Heart Read article

An aortic dissection in a young weightlifter with non-Marfan fibrillinopathy -- Hogan 22 (4): 304 --Emergency Medicine Journal Read article

Evolving phenotype of Marfans syndrome -- Lipscomb et al. 76 (1): 41 -- Archives of Disease inChildhood Read article


10%

5%

79%

3%

4%

1

2

3

4

5

Session Analysis

Score: 81.82%

Total Answered: 11

Tag Question

Rate this question


Answer statistics

Times answered 5613

Web(4) Molecular genetics of Marfansyndrome and Ehlers-Danlostype IV.www.ncbi.nlm.nih.govwww.ncbi.nlm.nih.gov/pubmed/






My Profile Sign Out




A 22-year-old female is diagnosed with cystinuria following recurrent episodes of renal colic.

Which of the following is characteristic of cystinuria?


Autosomal dominant inheritance

Cataracts

Cystine deposition within the liver

Premature coronary artery disease

Radio-opaque renal calculi


Score: 81.82%

Total Answered: 11

Tag Question







My Profile Sign Out




A 22-year-old female is diagnosed with cystinuria following recurrent episodes of renal colic.

Which of the following is characteristic of cystinuria?


Autosomal dominant inheritance

Cataracts

Cystine deposition within the liver

Premature coronary artery disease

Radio-opaque renal calculi Correct

Cystinuria is an autosomal recessive condition associated with the inadequate reabsorption of cystine (as wellas ornithine, arginine, and lysine; useful mnemonic COAL) in the nephron causing nephrolithiasis. The stonesare at least partially radio-opaque.

It accounts for less than 3% of renal calculi and has an incidence of 1 in 2,500.

The foundation of cystine stone prevention is adequate hydration and urinary alkalinisation.


Cystine calculi: challenging group of stones -- Ahmed et al. 82 (974): 799 -- Postgraduate MedicalJournal Read article

Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1,EVR3, and EVR4 in a large autosomal dominant pedigree -- Toomes et al. 89 (2): 194 -- BritishJournal of Ophthalmology Read article

New insights into cystinuria: 40 new mutations, genotypephenotype correlation, and digenicinheritance causing partial phenotype -- Font-Llitjs et al. 42 (1): 58 -- Journal of Medical Genetics Read article


18%

21%

6%

11%

44%

1

2

3

4

5

Session Analysis

Score: 83.33%

Total Answered: 12

Remove Tag

Rate this question


Answer statistics

Times answered 5443

Web(4) Cystinuria - Wikipedia, the freeencyclopediaen.wikipedia.orgen.wikipedia.org/wiki/CystinuriaCystinuria - Wikipedia, the free






My Profile Sign Out




A 28-year-old lady presents with multiple cafe au lait spots.

A diagnosis of neurofibromatosis (NF) type 1 is made.

Which of the following is true of the NF1 gene?


Inherited in a recessive fashion

Inherited in an X linked fashion

On chromosome 17

On mitochondrial genome

Related to NF2 gene


Score: 83.33%

Total Answered: 12

Tag Question







My Profile Sign Out




A 28-year-old lady presents with multiple cafe au lait spots.

A diagnosis of neurofibromatosis (NF) type 1 is made.

Which of the following is true of the NF1 gene?


Inherited in a recessive fashion

Inherited in an X linked fashion

On chromosome 17 Correct

On mitochondrial genome

Related to NF2 gene

Neurofibromatosis due to NF1 is found on chromosome 17 and is inherited in an autosomal dominant fashion.

NF2 is associated with acoustic neuromas and is found on chromosome 22.


Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenitalhereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct --Callaghan et al. 83 (1): 115 -- British Journal of Ophthalmol Read article

Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1,EVR3, and EVR4 in a large autosomal dominant pedigree -- Toomes et al. 42 (4): 291 -- Journal ofMedical Genetics Read article

Renal and extrarenal autosomal dominant polycystic kidney disease -- BASARIA and MEHTA 76(902): 814 -- Postgraduate Medical Journal Read article


16%

5%

67%

4%

8%

1

2

3

4

5

Session Analysis

Score: 84.62%

Total Answered: 13

Remove Tag

Rate this question


Answer statistics

Times answered 5425

Web(4) Autosome - Wikipedia, the freeencyclopediaen.wikipedia.orgen.wikipedia.org/wiki/AutosomeAutosome - Wikipedia, the free






My Profile Sign Out




Which of the following organelles contains enzymes responsible for the digestion of constituents of cells andtissues?


Endoplasmic reticulum

Golgi apparatus

Lysosomes

Microtubules

Mitochondria


Score: 84.62%

Total Answered: 13

Tag Question







My Profile Sign Out




Which of the following organelles contains enzymes responsible for the digestion of constituents of cells andtissues?


Endoplasmic reticulum

Golgi apparatus

Lysosomes Correct

Microtubules

Mitochondria

The lysosomes contain the enzymes and molecules such as oxidases, free radical, etc, responsible for thebreakdown of intracellular components.

Microtubules are involved in mitotic processes and intracellular transportation.

The mitochondria produce energy for cellular functions.


Clinical and morphological features including expression of ig-h3 and keratan sulphateproteoglycans in Maroteaux-Lamy syndrome type B and in normal cornea -- Akhtar et al. 86 (2): 147 -- British Journal of Ophthalmology Read article

Food for thought: autophagic vacuolar myopathies -- Strehle 94 (8): 567 -- Archives of Disease inChildhood Read article

A unique familial leukodystrophy with adult onset dementia and abnormal glycolipid storage: a newlysosomal disease? -- Simon et al. 65 (2): 251 -- Journal of Neurology, Neurosurgery Psychiatry Read article


4%

6%

87%

1%

3%

1

2

3

4

5

Session Analysis

Score: 85.71%

Total Answered: 14

Remove Tag

Rate this question


Answer statistics

Times answered 5145

Web(4) Lysosome - Wikipedia, thefree encyclopediaen.wikipedia.orgen.wikipedia.org/wiki/LysosomeLysosome - Wikipedia, the free






My Profile Sign Out




A 17-year-old female is affected by an inherited disorder. She has two brothers who are unaffected. She hastwo sisters both are affected. Her father is affected but not her mother.

Which of the following modes of inheritance is the best explanation?


Autosomal dominant

Autosomal recessive

Mitochondrial

X linked dominant

X linked recessive


Score: 85.71%

Total Answered: 14

Tag Question







My Profile Sign Out




A 17-year-old female is affected by an inherited disorder. She has two brothers who are unaffected. She hastwo sisters both are affected. Her father is affected but not her mother.

Which of the following modes of inheritance is the best explanation?


Autosomal dominant

Autosomal recessive

Mitochondrial

X linked dominant Correct

X linked recessive

This is a tricky question and the crucial part is recognising that X linked dominant conditions are transmitted bya father to all his daughters and that, on balance, this is a better explanation of the genetics than the tenuousassertion that an autosomal dominant condition has by chance affected three daughters but neither of twosons.

X linked dominant disorders are rare (for example, vitamin D-resistant rickets). They affect both sexes butfemales more than males.

All children of a homozygous mother are affected.

Half the sons and half the daughters inherit the disorder from an affected mother with the trait.

An affected father passes the disease to all his daughters but none of his sons - as in this example.






10%

6%

5%

61%

18%

1

2

3

4

5

Session Analysis

Score: 86.67%

Total Answered: 15

Remove Tag

Rate this question


Answer statistics

Times answered 5995


CorrectIncorrectPartiallyCorrectCorrect: 13 question(s)





My Profile Sign Out




Which of the following disorders is characterised by an autosomal recessive mode of inheritance?


Achondroplasia

Congenital adrenal hyperplasia

Familial hypercholesterolaemia

Hereditary haemorrhagic telangiectasia

Huntington's disease


Score: 86.67%

Total Answered: 15

Tag Question







My Profile Sign Out




Which of the following disorders is characterised by an autosomal recessive mode of inheritance?


Achondroplasia Incorrect answer selected

Congenital adrenal hyperplasia This is the correct answer


Hereditary haemorrhagic telangiectasia


All the others are autosomal dominant.


Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillarymalformation on chromosome 5q14 -- Brancati et al. 40 (11): 849 -- Journal of Medical Genetics Read article

Cerebral haemorrhage in hereditary haemorrhagic telangiectasia -- 88 (8): 739 -- Archives of Diseasein Childhood Read article

A case of manganese induced parkinsonism in hereditary haemorrhagic telangiectasia -- Yoshikawaet al. 74 (9): 1312 -- Journal of Neurology, Neurosurgery Psychiatry Read article


12%

48%

12%

19%

9%

1

2

3

4

5

Session Analysis

Score: 81.25%

Total Answered: 16

Remove Tag

Rate this question


Answer statistics

Times answered 5639

Web(4) Achondroplasia - Wikipedia,the free encyclopediaen.wikipedia.orgen.wikipedia.org/wiki/Achondroplasia






My Profile Sign Out




A 34-year-old man with polycystic kidney disease attends the transplant clinic with his 19-year-old brother.

His most recent creatinine has been measured at 342 mol/l, and he is on several anti-hypertensive drugs anderythropoietin injections to maintain his haemoglobin, which was recently measured as 10.4 g/l.

On examination his BP is 149/87 mmHg. Other findings are consistent with chronic renal failure. His father hadend stage renal failure for some years before his death.

Which of the following most accurately reflects the chances of his brother being able to donate a kidney to him?


0%

25%

33%

50%

100%


Score: 81.25%

Total Answered: 16

Tag Question







My Profile Sign Out




A 34-year-old man with polycystic kidney disease attends the transplant clinic with his 19-year-old brother.

His most recent creatinine has been measured at 342 mol/l, and he is on several anti-hypertensive drugs anderythropoietin injections to maintain his haemoglobin, which was recently measured as 10.4 g/l.

On examination his BP is 149/87 mmHg. Other findings are consistent with chronic renal failure. His father hadend stage renal failure for some years before his death.

Which of the following most accurately reflects the chances of his brother being able to donate a kidney to him?


0%

25%

33%

50% Correct

100%

Polycystic kidney disease (PCKD) carries an autosomal dominant inheritance pattern. As such, with oneaffected parent, each child has a 50% chance of inheriting the PCKD gene.

Whilst ultrasound is very sensitive in detection of PCKD in patients over 20, in those under 20 it is not 100%accurate.

It may not seem immediately obvious to consider a family member as a potential donor, but they may be avaluable source for a kidney in this situation.


Autosomal dominant polycystic kidney disease unlinked to thePKD1 and PKD2loci presenting asfamilial cerebral aneurysm -- MCCONNELL et al. 38 (4): 238 -- Journal of Medical Genetics Read article

Chronic obstructive pancreatitis due to a pancreatic cyst in a patient with autosomal dominantpolycystic kidney disease -- Malka et al. 42 (1): 131 -- Gut Read article

The investigation of hypocalcaemia and rickets -- Singh et al. 88 (5): 403 -- Archives of Disease inChildhood Read article


19%

21%

8%

47%

5%

1

2

3

4

5

Session Analysis

Score: 82.35%

Total Answered: 17

Remove Tag

Rate this question


Answer statistics

Times answered 2833

Web(4) Understanding & Living withAutosomal DominantPolycystic Kidney ...www.pkdcure.orgwww.pkdcure.org/Portals/0/files/






My Profile Sign Out




A 25-year-old male presents with symptoms of gait ataxia and pes cavus. His father developed similarsymptoms at the age of 36.

Which of the following genetic phenomena explains the age of his presentation?


Anticipation

Complex traits

Epistasis

Expansion

Microdeletion


Score: 82.35%

Total Answered: 17

Tag Question







My Profile Sign Out




A 25-year-old male presents with symptoms of gait ataxia and pes cavus. His father developed similarsymptoms at the age of 36.

Which of the following genetic phenomena explains the age of his presentation?


Anticipation Correct

Complex traits

Epistasis

Expansion

Microdeletion

A phenomenon whereby the symptoms of a condition appear at an earlier age when inherited in the nextgeneration is termed anticipation.

These conditions are almost exclusively associated with trinucleotide repeat sequences and examples areHuntington's disease, myotonic dystrophy, and Friedreich's ataxia, as is probably the case in this patient.


Friedreichs ataxia -- Pearce 75 (5): 688 -- Journal of Neurology, Neurosurgery Psychiatry Read article

Friedreich's ataxia presenting after cardiac transplantation -- Leonard and Forsyth 84 (2): 167 --Archives of Disease in Childhood Read article

Evidence of epistasis between interleukin 1 and selenoprotein-S with susceptibility to rheumatoidarthritis -- Marinou et al. 68 (9): 1494 -- Annals of the Rheumatic Diseases Read article


75%

6%

2%

9%

8%

1

2

3

4

5

Session Analysis

Score: 83.33%

Total Answered: 18

Remove Tag

Rate this question


Answer statistics

Times answered 6689

Web(4) Epistasis - Human MolecularGenetics - Oxford Journalshmg.oxfordjournals.orghmg.oxfordjournals.org/content/11/20/2463.abstract






My Profile Sign Out




Which of the following is a polygenic disorder?


Ankylosing spondylitis

Erythropoietic porphyria

Fragile X syndrome


Pendred's syndrome


Score: 83.33%

Total Answered: 18

Tag Question







My Profile Sign Out




Which of the following is a polygenic disorder?


Ankylosing spondylitis Correct

Erythropoietic porphyria

Fragile X syndrome


Pendred's syndrome

Unlike the other conditions, no one specific genetic defect has been identified to account for ankylosingspondylitis.

Huntington's chorea is an autosomal dominant condition.

Fragile X syndrome is due to a trinucleotide repeat at the FMR 1 gene on the X chromosome.

Erythropoietic porphyria is an autosomal recessive condition, as is Pendred's syndrome.


Association of chromosome 2q36.136.3 and autosomal dominant transmission in ankylosingspondylitis: results of genetic studies across generations of Han Chinese families -- Gu et al. 46 (10):657 -- Journal of Medical Genetics Read article

Recurrence risk modelling of the genetic susceptibility to ankylosing spondylitis -- Brown et al. 59 (11):883 -- Annals of the Rheumatic Diseases Read article

From the Library -- 86 (9): 1069 -- British Journal of Ophthalmology Read article


44%

14%

10%

9%

22%

1

2

3

4

5

Session Analysis

Score: 84.21%

Total Answered: 19

Tag Question

Rate this question


Answer statistics

Times answered 5294

Web(0) Book(4)






My Profile Sign Out




Which one of the following conditions is a polygenic disorder?


Amyotrophic lateral sclerosis (ALS)

Congenital adrenal hyperplasia (CAH)

Friedreichs ataxia

Huntingtons disease

Klinefelters syndrome


Score: 84.21%

Total Answered: 19

Tag Question







My Profile Sign Out




Which one of the following conditions is a polygenic disorder?


Amyotrophic lateral sclerosis (ALS) Correct

Congenital adrenal hyperplasia (CAH)

Friedreichs ataxia

Huntingtons disease

Klinefelters syndrome

All the other conditions are associated with a specific gene defect - CAH and Friedreich's being autosomalrecessive with Huntington's being dominant.

Klinefelter's is due to a chromosomal abnormality, XXY.

No specific defect has been detected thus far with ALS.


ABN Scientific Meeting -- 79 (3): 338 -- Journal of Neurology, Neurosurgery Psychiatry Read article

Early onset of Friedreich's ataxia in a compound heterozygote -- McGovern et al. 83 (1): 74 --Archives of Disease in Childhood Read article

Mitochondrial DNA haplogroups influence the Friedreichs ataxia phenotype -- Giacchetti et al. 41(4): 293 -- Journal of Medical Genetics Read article


54%

18%

12%

9%

7%

1

2

3

4

5

Session Analysis

Score: 85%

Total Answered: 20

Remove Tag

Rate this question


Answer statistics

Times answered 5610

Web(4) Friedrich, Christopher A.,M.D.'s Profile - University ofMississippi ...www.umhc.comwww.umhc.com/doctors/Friedric






My Profile Sign Out




With respect to lipoprotein transport and metabolism in the body, the following statements are correct, exceptwhich?


Arterial walls contain cells with LDL receptors

Cholesterol is required for the formation of red blood cell membranes

Chylomicrons are synthesised in the liver

HDL is assembled in the extracellular space

VLDL transformation to LDL occurs in the liver


Score: 85%

Total Answered: 20

Tag Question







My Profile Sign Out




With respect to lipoprotein transport and metabolism in the body, the following statements are correct, exceptwhich?


Arterial walls contain cells with LDL receptors

Cholesterol is required for the formation of red blood cell membranes

Chylomicrons are synthesised in the liver Correct

HDL is assembled in the extracellular space

VLDL transformation to LDL occurs in the liver

Chylomicrons are formed in the gut from exogenous triacylglycerols and cholesterol.

They are released into the lymph and thereby enter the blood.

They are not formed in the liver.


Scavenger receptor class B type I (SR-BI) in pig enterocytes: trafficking from the brush border to lipiddroplets during fat absorption -- Hansen et al. 52 (10): 1424 -- Gut Read article

The APO*E3-Leiden mouse as an animal model for basal laminar deposit -- Kliffen et al. 84 (12):1415 -- British Journal of Ophthalmology Read article

Vitamin D in childhood and adolescence -- Cashman 83 (978): 230 -- Postgraduate Medical Journal Read article


10%

17%

35%

19%

19%

1

2

3

4

5

Session Analysis

Score: 85.71%

Total Answered: 21

Tag Question

Rate this question


Answer statistics

Times answered 5240

Web(4) The surface coat ofchylomicrons: electronmicroscopywww.jlr.orgwww.jlr.org/content/9/2/187.full.






My Profile Sign Out




A 59-year-old woman has had insulin dependent diabetes mellitus for over two decades. The degree of controlof her disease is characterised by the laboratory finding of a HbA1c of 10.1%.

She complains of repeated episodes of abdominal pain following meals. These episodes have become morefrequent and last for longer periods over the last couple of months.

On physical examination, there are no abdominal masses and she has no enlarged liver, spleen or kidneys andno tenderness to palpation.

Which of the following findings is most likely to be present?


Acute pancreatitis

Chronic renal failure

Hepatic infarction

Mesenteric artery occlusion

Ruptured aortic aneurysm


Score: 85.71%

Total Answered: 21

Tag Question







My Profile Sign Out




A 59-year-old woman has had insulin dependent diabetes mellitus for over two decades. The degree of controlof her disease is characterised by the laboratory finding of a HbA1c of 10.1%.

She complains of repeated episodes of abdominal pain following meals. These episodes have become morefrequent and last for longer periods over the last couple of months.

On physical examination, there are no abdominal masses and she has no enlarged liver, spleen or kidneys andno tenderness to palpation.

Which of the following findings is most likely to be present?


Acute pancreatitis

Chronic renal failure

Hepatic infarction

Mesenteric artery occlusion Correct

Ruptured aortic aneurysm

Diabetes - especially type 2 diabetes - is associated with macrovascular disease.

Smoking is a further risk factor for macrovascular atherosclerosis.

After a meal splanchnic blood flow is increased. If the mesenteric artery is occluded the lack of blood flow tothe bowel will produce ischaemic type pain.

Chronic renal failure may be present but would not cause post prandial pain.

Ruptured aortic aneurysm would normally present acutely with hypotension, cold lower limbs with reducedpulses and a pulsatile, tender abdominal mass.

Pancreatitis is unlikely given the history and the lack of epigastric tenderness.

Hepatic infarction should lead to right upper quadrant pain.


The role of platelet activating factor in a neonatal piglet model of necrotising enterocolitis -- Ewer etal. 53 (2): 207 -- Gut Read article

Abstracts -- 94 (Suppl 2): A5 -- Heart Read article

Acute abdomen (Assessment of) - Emergencies - Urgent considerations - Best Practice - English


12%

6%

3%

78%

1%

1

2

3

4

5

Session Analysis

Score: 86.36%

Total Answered: 22

Remove Tag

Rate this question


Answer statistics

Times answered 5304

Web(4) Pseudoaneurysm - Wikipedia,the free encyclopediaen.wikipedia.orgen.wikipedia.org/wiki/Pseudoaneurysm






My Profile Sign Out




In meiosis which of the following is true?


Anaphase lag results in one of the two daughter cells receiving an extra part of one chromosome.

At the beginning of meiosis 2, each cell contains 23 single chromosomes.

DNA replication occurs during meiosis 1.

Non-disjunction at mitosis (meisois 2) results in mosaicism.

The incidence of Down's syndrome due to translocation increases with increasing maternal age.


Score: 86.36%

Total Answered: 22

Tag Question







My Profile Sign Out




In meiosis which of the following is true?


Anaphase lag results in one of the two daughter cells receiving an extra part of one chromosome.

At the beginning of meiosis 2, each cell contains 23 single chromosomes.

DNA replication occurs during meiosis 1. Incorrect answer selected

Non-disjunction at mitosis (meisois 2) results in mosaicism. This is the correct answer

The incidence of Down's syndrome due to translocation increases with increasing maternal age.

Meiosis is the form of cell division that produces gametes. It is divided into two parts, meiosis 1 and meiosis 2.

Deoxyribonucleic acid (DNA) replication occurs before meiosis 1, and the cell begins division with twice thenormal cellular amount of DNA.

In meiosis 1, each daughter cell gets one of the duplicated chromosomes of each pair. At the beginning ofmeiosis 2, each cell contains 23 chromosomes each with a duplicated pair of chromatids.

In meiosis 2, the duplicated pair separate and each daughter cell ends up with one of each of the 23chromosomes (4 hapolid daughter cells).

Two common errors of cell division occurring during meiosis are non-disjunction (2 chromosomes fail toseparate, so both copies of the chromosome go to one of the daughter cells); and anaphase lag in which achromatid is lost because it fails to move quickly enough during anaphase to become incorporated into one ofthe new daughter cells.

In Down's syndrome, non-disjunction accounts for 94% of cases. The incidence of this increases withincreasing maternal age. Five per cent of cases are due to translocation, and 1% to mosaicism.

Copyright 2011 Dr Colin Melville


Association of sister chromatid exchange frequencies in patients with ankylosing spondylitis with andwithout HLA-B27 -- Ikbal et al. 62 (8): 775 -- Annals of the Rheumatic Diseases Read article

Genomic duplication resulting in increased copy number of genes encoding the sister chromatidcohesion complex conveys clinical consequences distinct from Cornelia de Lange -- Yan et al. 46 (9):626 -- Journal of Medical Genetics Read article

Biomonitoring results and cytogenetic markers among harbour workers with potential exposure to river


5%

18%

18%

16%

43%

1

2

3

4

5

Session Analysis

Score: 82.61%

Total Answered: 23

Remove Tag

Rate this question


Answer statistics

Times answered 5119

Web(0) Book(4)






My Profile Sign Out




Regarding benign essential tremor which of the following is true?


Alcohol improves the tremor

Is autosomal recessive in inheritance

Is present characteristically at rest

Occurs in liver disease

Occurs with lesion in sub thalamus


Score: 82.61%

Total Answered: 23

Tag Question







My Profile Sign Out




Regarding benign essential tremor which of the following is true?


Alcohol improves the tremor Correct

Is autosomal recessive in inheritance

Is present characteristically at rest

Occurs in liver disease

Occurs with lesion in sub thalamus

There is no tremor at rest, but a rhythmic oscillation develops when the patient holds the arms outstretched.

A positive family history is obtained in over half of such patients and the pattern of inheritance in such familiesindicates an autosomal dominant trait.

Alcohol suppresses essential tremor, but the mechanism responsible is unknown.






76%

5%

15%

2%

3%

1

2

3

4

5

Session Analysis

Score: 83.33%

Total Answered: 24

Remove Tag

Rate this question


Answer statistics

Times answered 5026







My Profile Sign Out




Autosomal recessive conditions include which of the following?


Huntington's chorea

Manic depression

Turner's syndrome

Vitamin D resistant rickets

Wilson's disease


Score: 83.33%

Total Answered: 24

Tag Question







My Profile Sign Out




Autosomal recessive conditions include which of the following?


Huntington's chorea

Manic depression

Turner's syndrome

Vitamin D resistant rickets Incorrect answer selected

Wilson's disease This is the correct answer

Vitamin D resistant rickets are X linked dominant.

No linkage has been established for a particular gene in manic depressive disorder.






8%

3%

4%

18%

67%

1

2

3

4

5

Session Analysis

Score: 80%

Total Answered: 25

Remove Tag

Rate this question


Answer statistics

Times answered 6032

Web(0) Book(4)






My Profile Sign Out




Which of the following is not true regarding the polymerase chain reaction?


It can be used to detect the presence of viral DNA in human disease

It is used to amplify DNA but not RNA

It utilises the thermostable properties of Taq DNA polymerase

Synthetic short DNA primers which flank the sequence of interest are required to initiate the amplification

The amount of DNA required makes it unsuitable for early prenatal diagnosis


Score: 80%

Total Answered: 25

Tag Question







My Profile Sign Out




Which of the following is not true regarding the polymerase chain reaction?


It can be used to detect the presence of viral DNA in human disease

It is used to amplify DNA but not RNA

It utilises the thermostable properties of Taq DNA polymerase

Synthetic short DNA primers which flank the sequence of interest are required to initiate the amplification

The amount of DNA required makes it unsuitable for early prenatal diagnosis Correct

Reverse transcription polymerase chain reaction (rt-PCR) is used to amplify RNA rather than PCR specifically.

Preimplantation diagnosis uses IVF and genetic analysis of 3-day-old embryos before selective transfer ofunaffected embryos to uterus.


Toxins and the gut: role in human disease -- Fasano 50 (suppl 3): iii9 -- Gut Read article

The animal story -- Roeder 331 (7527): 1262 -- BMJ Read article

Campylobacter 0:41 isolation in Guillain-Barre syndrome -- Goddard et al. 76 (6): 526 -- Archives ofDisease in Childhood Read article


12%

27%

10%

12%

40%

1

2

3

4

5

Session Analysis

Score: 80.77%

Total Answered: 26

Remove Tag

Rate this question


Answer statistics

Times answered 5999

Web(4) Thermostability - Wikipedia,the free encyclopediaen.wikipedia.orgen.wikipedia.org/wiki/Thermostability






My Profile Sign Out




Mutation in which of the following is associated with Alport syndrome?


Collagen type I gene

Collagen, type IV, alpha 5 gene

Fibrillin- gene

FMR-1 gene



Score: 80.77%

Total Answered: 26

Tag Question







My Profile Sign Out



Work Smart Session - MRCP Part 1Question: 1 of 6

Time taken: 00:50

Mutation in which of the following is associated with Alport syndrome?


Collagen type I gene

Collagen, type IV, alpha 5 gene Correct

Fibrillin- gene

FMR-1 gene


Mutations in the COL4A5 gene cause approximately 80% of Alport syndrome cases.

Several hundred different mutations have been identified, the majority of which cause a change in the sequence of aminoacids (the building blocks of proteins) in a region of the alpha5(IV) collagen chain that is critical for combining with othertype IV collagen chains.

Other mutations severely decrease or prevent the production of the alpha5(IV) chains.

As a result, there is a serious deficiency of the type IV collagen network in the basement membranes of the kidney, innerear, and eye.


Lysyl oxidase deficiency: a new cause of human arterial dissection -- Sibon et al. 91 (5): e33 -- Heart Read article

The molecular genetics of Marfan syndrome and related disorders -- Robinson et al. 43 (10): 769 -- Journal of





My Profile Sign Out




A 29-year-old male presents to you seeking advice regarding starting a family.

He has common variable immunodeficiency and wants to know what is the risk of passing this on to hischildren?


Less than 5%

25%

33%

50%

Over 70%


Score: 81.48%

Total Answered: 27

Tag Question







My Profile Sign Out




A 29-year-old male presents to you seeking advice regarding starting a family.

He has common variable immunodeficiency and wants to know what is the risk of passing this on to hischildren?


Less than 5% Correct

25%

33%

50%

Over 70%

Common variable immunodeficiency involves low levels of most or all of the immunoglobulin classes, a lack ofB lymphocytes or plasma cells that are capable of producing antibodies, and is associated with frequentbacterial infections.

The cause of CVID is unknown - a family member may be affected in approximately 20% but there is no clearpattern of inheritance.


38%

33%

4%

21%

3%

1

2

3

4

5

Session Analysis

Score: 82.14%

Total Answered: 28

Remove Tag

Rate this question


Answer statistics

Times answered 4990

Web Book






My Profile Sign Out




Which of the following abnormalities is associated with short stature?


45, XO karyotype

47, XXY karyotype

47 XYY karyotype

Fragile X syndrome

Homocystinuria


Score: 82.14%

Total Answered: 28

Tag Question







My Profile Sign Out




Which of the following abnormalities is associated with short stature?


45, XO karyotype Correct

47, XXY karyotype

47 XYY karyotype

Fragile X syndrome

Homocystinuria

Turner's syndrome, 45 XO, is characteristically associated with short stature.

Klinefelter's is associated with tall stature.

In Fragile X, height is usually unaffected and homocystinuria may have a Marfan's habitus.


New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbedneck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes -- FRYNS andAFTIMOS 37 (6): 460 -- Journal of Medical Genetics Read article

Early assessment of ambiguous genitalia -- Ogilvy-Stuart and Brain 89 (5): 401 -- Archives of Diseasein Childhood Read article

Lung mass in a short woman -- Convery et al. 75 (887): 561 -- Postgraduate Medical Journal Read article


80%

8%

2%

5%

4%

1

2

3

4

5

Session Analysis

Score: 82.76%

Total Answered: 29

Remove Tag

Rate this question


Answer statistics

Times answered 5088

Web(4) Body Size and Habitus -Clinical Methods - NCBIBookshelfwww.ncbi.nlm.nih.govwww.ncbi.nlm.nih.gov/books/NB






My Profile Sign Out




Which of the following is characteristically inherited in an autosomal recessive manner?


Achondroplasia

Adult polycystic kidney disease (APKD)

C1 esterase deficiency


Friedreich's ataxia


Score: 82.76%

Total Answered: 29

Tag Question







My Profile Sign Out




Which of the following is characteristically inherited in an autosomal recessive manner?


Achondroplasia

Adult polycystic kidney disease (APKD)

C1 esterase deficiency


Friedreich's ataxia Correct

Achondroplasia, APKD, C1 esterase deficiency (hereditary angio-oedema) and familial hypercholesterolaemia

are usually inherited as autosomal dominant traits.

Friedreich's ataxia is characteristically an autosomal recessive inheritance.


Germline and somatic mosaicism in achondroplasia -- HENDERSON et al. 37 (12): 956 -- Journal ofMedical Genetics Read article

Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, andlung function study -- Tasker et al. 79 (2): 99 -- Archives of Disease in Childhood Read article

Current management of hereditary angio-oedema (C'1 esterase inhibitor deficiency) -- Fay andAbinun 55 (4): 266 -- Journal of Clinical Pathology Read article


12%

5%

32%

8%

44%

1

2

3

4

5

Session Analysis

Score: 83.33%

Total Answered: 30

Tag Question

Rate this question


Answer statistics

Times answered 4881

Web(0) Book(4)






My Profile Sign Out




In X linked recessive inheritance, which of the following is true?


Daughters of affected males will all be carriers

Each daughter of a female carrier has a 1:4 risk of being a carrier

Each son of a female carrier has a 1:4 risk of being affected

The family history is often positive since new mutations are rare

The male to female ratio is 2:1


Score: 83.33%

Total Answered: 30

Tag Question







My Profile Sign Out




In X linked recessive inheritance, which of the following is true?


Daughters of affected males will all be carriers Correct

Each daughter of a female carrier has a 1:4 risk of being a carrier

Each son of a female carrier has a 1:4 risk of being affected

The family history is often positive since new mutations are rare

The male to female ratio is 2:1

Over 250 X linked recessive disorders have been described.

The commonest include:

Red/green colour blindnessDuchenne and Becker muscular dystrophiesFragile X syndromeG6PD deficiencyHaemophillias A and BHunter's syndrome.

The abnormal gene is carried on the X chromosome, and in the carrier female, the normal allele on her other Xchromosome protects her from the disease. Since the male does not have this protection, he manifests thedisease.

In X linked inheritance therefore:

Males are all affectedFemales only occasionally show mild sign of diseaseEach son of a female carrier has a 1:2 chance of being affectedEach daughter of a female carrier has a 1:2 risk of being a carrierDaughters of affected males will all be carriers, but sons of affected males will not be affected since the Ychromosome is derived from father.

The family history may be negative, however, since new mutations are fairly common.

Carrier females can be identified from time to time from mild clinical manifestations and from specific tests suchas biochemical markers, for example, creatine kinase in Duchenne muscular dystrophy.

Copyright 2002 Dr Colin Melville


ABN Abstracts -- 74 (8): 1166 -- Journal of Neurology, Neurosurgery Psychiatry Read article


76%

9%

9%

3%

3%

1

2

3

4

5

Session Analysis

Score: 83.87%

Total Answered: 31

Remove Tag

Rate this question


Answer statistics

Times answered 5592

Web(4) DMD Fund - DuchenneMuscular Dystrophy Infowww.dmdfund.orgwww.dmdfund.org/dmd_duchenne_muscular_dystrophy.html






My Profile Sign Out




Which of the following disorders is characterised by an autosomal dominant mode of inheritance?


Beta-thalassaemia

Cystic fibrosis

Marfan syndrome

Wilson's disease

Xeroderma pigmentosa


Score: 83.87%

Total Answered: 31

Tag Question







My Profile Sign Out




Which of the following disorders is characterised by an autosomal dominant mode of inheritance?


Beta-thalassaemia

Cystic fibrosis

Marfan syndrome Correct

Wilson's disease

Xeroderma pigmentosa

Apart from Marfan syndrome, all the other listed options are autosomal recessive.


DNA repair disorders -- Woods 78 (2): 178 -- Archives of Disease in Childhood Read article

Conjunctival squamous cell carcinoma in Tanzania -- Poole 83 (2): 177 -- British Journal ofOphthalmology Read article

Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnosticcriteria and an approach to investigation -- Laugel et al. 45 (9): 564 -- Journal of Medical Genetics Read article


8%

7%

57%

10%

18%

1

2

3

4

5

Session Analysis

Score: 84.38%

Total Answered: 32

Remove Tag

Rate this question


Answer statistics

Times answered 5116

Web(4) Xeroderma Pigmentosum -GeneReviews - NCBIBookshelfwww.ncbi.nlm.nih.govwww.ncbi.nlm.nih.gov/books/NB


IwMTIvR2VuZXRpY3MvMS5hc3B4AA==: aspnetForm: rdBtnOption140885: 0

ctl00$MainContent$quView$btnMark: ctl00$MainContent$quView$btnSkip: BookmarkButton: ctl00$MainContent$btnRemove:

IwMTIvR2VuZXRpY3MvMWEuYXNweAA=: aspnetForm: rdBtnOption140885: 220496

ctl00$MainContent$quView$btnMark: BookmarkButton: ctl00$MainContent$btnRemove: search: input0:

IwMTIvR2VuZXRpY3MvMi5hc3B4AA==: aspnetForm: rdBtnOption152017: 0


IwMTIvR2VuZXRpY3MvMmEuYXNweAA=: aspnetForm: rdBtnOption152017: 240348


IwMTIvR2VuZXRpY3MvMy5hc3B4AA==: aspnetForm: rdBtnOption140852: 0


IwMTIvR2VuZXRpY3MvM2EuYXNweAA=: aspnetForm: rdBtnOption140852: 220318


IwMTIvR2VuZXRpY3MvNC5hc3B4AA==: aspnetForm: rdBtnOption111320: 0


IwMTIvR2VuZXRpY3MvNGEuYXNweAA=: aspnetForm: rdBtnOption111320: 148148

ctl00$MainContent$quView$btnMark: BookmarkButton: ctl00$MainContent$btnRemove: search: autosomal Epistasis Fanconi input0:

IwMTIvR2VuZXRpY3MvNS5hc3B4AA==: aspnetForm: rdBtnOption53904: 0


IwMTIvR2VuZXRpY3MvNWEuYXNweAA=: aspnetForm: rdBtnOption53904: 65823

ctl00$MainContent$quView$btnMark: BookmarkButton: ctl00$MainContent$btnRemove: search: Danlos Fibrillin Marfan input0:

IwMTIvR2VuZXRpY3MvNi5hc3B4AA==: aspnetForm: rdBtnOption51610: 0


IwMTIvR2VuZXRpY3MvNmEuYXNweAA=: aspnetForm: rdBtnOption51610: 57507

ctl00$MainContent$quView$btnMark: BookmarkButton: ctl00$MainContent$btnRemove: search: fibrillin Marfan Danlos input0:

IwMTIvR2VuZXRpY3MvNy5hc3B4AA==: aspnetForm: rdBtnOption45551: 0


IwMTIvR2VuZXRpY3MvN2EuYXNweAA=: aspnetForm: rdBtnOption45551: 46647

ctl00$MainContent$quView$btnMark: BookmarkButton: ctl00$MainContent$btnRemove: search: Cystine autosomal arginine input0:

IwMTIvR2VuZXRpY3MvOC5hc3B4AA==: aspnetForm: rdBtnOption30791: 0


IwMTIvR2VuZXRpY3MvOGEuYXNweAA=: aspnetForm: rdBtnOption30791: 28505

ctl00$MainContent$quView$btnMark: BookmarkButton: ctl00$MainContent$btnRemove: search: autosomal input0:

IwMTIvR2VuZXRpY3MvOS5hc3B4AA==: aspnetForm: rdBtnOption18643: 0


IwMTIvR2VuZXRpY3MvOWEuYXNweAA=: aspnetForm: rdBtnOption18643: 170962

ctl00$MainContent$quView$btnMark: BookmarkButton: ctl00$MainContent$btnRemove

onexamination 2012 - genetics - ().pdf

Documents