human genetics
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HUMAN GENETICS. Disorders. Interpreting Pedigrees with Andrew Douch. Interpreting Pedigrees the Fast Way –Example 1(6:42) Example 2 (6:46) 1. Is anyone with a phenotype different from parents? - PowerPoint PPT PresentationTRANSCRIPT
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HUMAN GENETICS
Disorders
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Interpreting Pedigrees with Andrew Douch Interpreting Pedigrees the Fast Way –Example 1(6:42) Example 2 (6:46)
1. Is anyone with a phenotype different from parents?
2.Are there any girls with recessive phenotype who have a father or son with a dominant phenotype?
Autosomal Dominant X-linked dominantAutosomal Recessive X-linked recessive
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Autosomal Dominant:trait does not skip generations
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Autosomal Recessive: tends to skip generations
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X-linked dominant: both males and females affecteddoes not skip generations
Affected sons have an affected mother
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X-linked recessive: more males than females affected
Skips generations: affected sons from non-affected mothers
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Testing for genetic disorders
Ultrasound imaging-a sonogram made from passing high-frequency sound waves with a transducer through the abdomen
(least invasive)
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Testing for genetic disorders
Amniocentesis-a small amount of amniotic fluid, which contains fetal tissues, is sampled
Use cells for karyotyping
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Testing for genetic disorders
Chorionic villus sampling (CVS)-take a sample of the placental tissue for chromosomal abnormalities
Can use cells for karyotyping
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AUTOSOMAL RECESSIVE
Autosomes = , chromosomes #1- #22
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Cystic Fibrosis-ff
It causes the body to produce a thick, sticky mucus that clogs the lungs and digestive tract.
On Chromosome 7Autosomal recessive
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One test is for salty skinCF salt test
Salty skin (Mutations of the CFTR gene affect functioning of the chloride ion channels)
thin (do not digest well)
abnormal bowel movements
CFTR video (8:18) describe 6 mutation disfunctions for 2 pts Ex Cr
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Cystic Fibrosis (cont.)
Most common fatal genetic disease in US today
Most common in Caucasians Small Child CR Treatment (thumping) Thumping Vest (1:24) Living with CF (3:48)
Daily meds
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Cystic Fibrosis Chromosome 7 FF = no CF Ff = carrier ff = has CF (recessive) Life with CF (3:48)
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PKU
Phenylketonuria (PKU)
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PKU on chromosome 12recessive
Lacks enzyme to break down the amino acid phenylalanine (found in milk)
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PKU (cont.)
The breakdown products can be harmful to developing nervous systems
Leads to mental retardation.
Kate with PKU Movie
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PKUChromosome 12Put on low protein
dietAvoid
phenylalanine
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TAY SACHS
Results in degeneration of the nervous system.
Chromosome 15recessive
Highest rate in Eastern European Jews, next Irish-Americans
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Tay Sachs (cont)
Lack enzyme to break down fat, accumulates in brain (poisons it)
tt Chromosome 15 NOVA Online | Crac
king the Code of Life | Watch the Program Here #3
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Tay Sachs Disease is a fatal lipid storage disorder where a fatty substance (ganglioside) builds up in the nerve tissue and cells of the brain. This is caused by an insufficient enzyme called beta-hexosaminidase A that catalyzes the biodegration of gangliosides.
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Tay-Sachs SymptomsSymptoms first appear at 4 to 6 months of age when an apparently healthy baby gradually stops smiling, crawling or turning over, loses its ability to grasp or reach out, and eventuallybecomes blind, paralyzed and unaware of its surroundings. Death usually occurs by age 4. Tay-Sachs PT (1:52)
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Albinism
Inability to manufacture pigments (melanin) in skin and eyes
Autosomal recessive traitChromosome 11
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Famous Albinos
Andy Warhol, a famous artist
Rock musician Edgar Winter, an albino.
“The Twins” in Matrix Reloaded
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Is this an advantage or disadvantage?
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Different kinds of albinism
affect chromosomes 1, 9, 10, 11, 15 and X (ocular albinism)
Often rapid back and forth eye movement – lack of pigment in eyes.
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Polar bears actually have black skin under all that white fur.
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AUTOSOMAL DOMINANTon chromosomes 1-22
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Sickle Cell Anemia
Autosomal dominant disease
Chromosome #11Red blood cells
collapse and clot blood vessels
Found in African-Americans
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Sickle-Cells
Normal Red Blood Cells-like a donut
Sickle-cells collapse, hard, clog vessels
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Sickle-Cell Anemia
CodominantSS = diseaseAS = carrier (somewhat resistant to
malaria)AA =normal hemoglobinLiving with SSA
Plasmodium in blood - malaria
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Sickle-Cell Complications1.pain episodes 2.strokes 3.increased infections 4.leg ulcers 5.bone damage 6.yellow eyes or jaundice 7.early gallstones 8.lung blockage 9.kidney damage and loss of body water in urine 10.painful erections in men (priapism) 11.blood blockage in the spleen or liver (sequestration) 12.eye damage 13.low red blood cell counts (anemia) 14.delayed growth
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Huntington’s Disease
Woody Guthrie’s disease (folksinger 1960’s)
Autosomal dominant
Does not manifest itself until age 20’s - 30’s
H=dominant disease
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What is the chance of a child of a Huntington Mother having Hungtingtons?
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Huntington’sChromosome 4Atrophy of brainUncontrollable
muscle spasms40+ CAG’s (build up
protein clumps) Huntington's Chorea Dance
(5:33)
Controls thinking, emotion, movement
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Huntington’s
Clumsiness Jaw clenching Loss of coordination and balance Slurred speech Swallowing and/or eating difficulty Uncontrolled continual muscular contractions Walking difficulty, stumbling Hostility/irritability
Inability to take pleasure in life Lack of energy person with Huntington's also may exhibit psychotic
behavior: Delusion Halluciations Inappropriate behavior (e.g., unprovoked aggression) Paranoia
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Achondroplasia
-Autosomal Dominant
-chromosome 4Achondroplasia: Genetic Causes (2:40)
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Achondroplasia
DwarfismAchondroplasia: Gen
etics (2:20)
short statureDwarfismshortening of limbs, trident handsprominent forehead
Average adult male height of 52 inches; average adult female height of 49 inches
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FAQ
Can short-statured couples become the parents of average-size children?
AA=deadAa=Achondroplasiaaa=normal
A a
A
a
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FAQ
Can short-statured couples become the parents of average-size children?
AA=deadAa=Achondroplasiaaa=normal
AA Aa
Aa aa
A a
A
a
X
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Alzheimer syndrome
Widespread nerve cell dysfunction and cell death in the brain
Dementia (memory loss)
Alzheimer's Disease: Medical Update (1:39)
Life with Alzheimers
(3:56)
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Alzheimer Syndrome
Autosomal Dominant Found on Chromosome 1,
or 10, or 14, or 19, or 21 APO4, is a cholesterol-
carrying protein linked to development a protein that forms plaque in the brain
Alzheimer's neurology (1:01) Alzheimers' Disease: Neurology
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Brain Loss
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Early or mild stage:
memory loss, especially of recent events difficulty in recalling names and conversations misplacing objects becoming lost in familiar neighborhoods repeating stories and conversations difficulty in learning new information personality changes decreased motivation and drive easily upset or anxious
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Marfan Syndromeautosomal
dominant disorder
chromosome 15
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Marfan’s: taller, pigeon chest Marfan's Video (2:45)
Spidery fingers, enlargement of aorta
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Michael Phelps Does Not Have Marfans
Clarence Holloway of Louisville does have Marfan's syndrome (had
open-heart surgery)
XGheorge Muresan7’7”
Extra Tall Athletes in their recruiting physical are tested for Marfans.
Manute Bol didDied at age 47
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Marfan Syndrome a connective tissue
disorderAffects skeleton,
lungs, eyes, heart and blood vessels.
unusually long limbsHigh arch palateDebated if Abraham
Lincoln has Marfan’s.
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SEX-LINKED DISORDERS
On X chromosome
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Hemophilia- “bleeder’s disease”New Hemophilia Treatment (48 secs)
Living with Hemophilia (4:53)
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Hemophilia blood tainted with AIDS
60 Minutes:Hemophiliacs Sue the Blood Donors Organizations
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Hemophilia passed by queen victoria
Blood does not clot normally
Sex-linked recessive
Missing AHF (clotting factor in blood)
Czar Nicholas royal family
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Royal Pedigree-Hemophilia
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“bleeder’s disease”
XHXh = female carrier
XhXh = female hemo
XHY = normal male
XhY = hemo male
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Color Blindness
inability to perceive differences between some of the colors that others can distinguish.
More common in malesSex-linked (red and Green) on X chromosomeWhat it's like being color-blind? (3:35)
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Color Blindness
3 seconds to determine number Ishihara Test for Color
Blindness
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Ishihara Test for Color Blindness
The individual with normal color vision will see a 5 revealed in the dot pattern. An individual with Red/Green (the most common) color blindness will see a 2 revealed in the dots.
Are You color blind? (2:26)
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Color blindness=can’t tell certain colors
Recessive on X chromosome = c
XCXc = normal female (carrier)
XcY = color-blind
male
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What numbers do you see?
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Note: X and Y used
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Need X and Y on Punnetts
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Duchenne Muscular Dystrophy
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MD
Duchenne Muscular DystrophyOn Xm chromosomeWeakens and degenerates
musclesFound mostly in malesmutation in the dystrophin gene
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DMD
absence of dystrophin, a protein that helps keep muscle cells intact.
-Leg muscles first.
-Calves often enlarged.
-Eventually this weakness spreads to the arms, neck, and other areas.
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DMD
Onset ·Early childhood - about 2 to 6 years.
Symptoms · Generalized weakness of muscle
Wasting affecting limb and trunk
Duchenne Timeline (5:43)
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DMD
Survival rare beyond late twenties.
X-linked recessive (females are carriers).
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POLYGENIC DISORDERS
Determination of disorder occurs on more than one chromosome
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SPINA BIFIDA
is a fault in the spinal column in which one or more vertebrae (the bones which form the backbone) fail to form properly, leaving a gap or split. A Snapshot of Spina Bifida (4:52)
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Spina Bifida
#6, #14 and othersGap in spinal column
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Shunts often put in the brain to drain the fluid
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Agent Orange
Children with Spina Bifida whose parent was in contact with Agent Orange during the Vietnam War are compensated
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Cleft Lip/Cleft Palate
A cleft is an opening in the lip, the roof of the mouth (hard palate) or the soft tissue in the back of the mouth (soft palate).
#11, #17, #22
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Clefts
Bilateral Complete Cleft Lip/Palate
Clefts occur more often among Asians and certain groups of American Indians than among whites. They occur less frequently among blacks.
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Cleft lip/palate
As you can imagine there are feeding problems
#11, #22, #17 –Polygenic Unilateral Cleft Lip Repair (9:15)
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Hypercholesterolemiapolygenic dominant
is the presence of high levels of cholesterol in the blood.
lead to atherosclerosis (hardening of the arteries)
additive effects of multiple genes (polygenic) yellowish patches
consisting of cholesterol deposits above the eyelids.
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Hypercholesterolemia
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On Y chromosomeSRY gene: male determining only on YTestes determining factor
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NOTE:
If you are born with no “X” chromosome- it is fatal
If missing an autosome-it is fatal
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X chromosome
Sex-linked traits
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Triple-X Syndrome
triplo-Xtrisomy XXXX syndrome47,XXX aneuploidy
There is usually no distinguishable difference to the naked eye between women with triple X and the rest of the female population.
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Triple-X Syndrome
Although females with this condition may be taller than average, this chromosomal change typically causes no unusual physical features.
Most females with triple X syndrome have normal sexual development and are able to conceive children.
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Nondisjunction
Chromosomes to segregate unevenly during meiosis
Mistakes in Meiosis
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Down’s Syndrome
Trisomy 21Extra fold over eyeSluggish musclesMental problems
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Trisomy 21 Karyotype
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Nondisjunction
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Turner’s Syndrome
Adults with Turner syndrome are short, averaging around four feet, eight inches in height.
Flap in neck
Small breasts
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But girls with Turner syndrome don't start life as very short individuals - they become short over time-do not develop sexually
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Turner’s Syndrome 45 X0
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Kleinfelter’s 47 XXY
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Kleinfelter’s
-Testes are small -breast growth (gynaecomastia) -poorly developed secondary sexual characteristics.
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Klinefelter’s
Men are sterile (no sperm).
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Special Topics In Human Genetics
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BARR BODIES
When a female is born one of her X chromosomes is inactivated = a Barr Body (early in embryonic development)
Used to test femaledness at Olympics
So there is not excess of X info in females
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Calico Cat – X linked
Only females have 3 colors (orange, black, white)
Looks like “Pepper”
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Multiple colors in cats mostly in females
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GENETIC DISORDERS REFERENCE SHEET:Down Syndrome (Trisomy 21)Edward's Syndrome (Trisomy 18)Patau Syndrome (Trisomy 13)Klinefelter Syndrome (47, XXY)
Turner Syndrome (45 XO)
Metafemale (46XXX)-taller
Autosomes (#1-22) so 44 if normal
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Angelman Syndrome
Deletion of Chromosome 15If inherited from FATHER Symptoms: Short and obese, delayed
development, frequent laughing
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Angelman Syndrome
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Prader-Willi Syndrome
Deletion is inherited from mother’s chromosome 15
Hyperactive, chronic hunger, low muscle tone, obesity
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Prader-Willi Syndrome
–Before and after controlled eating