human genetic disorders a look into a few different types
TRANSCRIPT
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HUMAN GENETIC DISORDERS
A look into a few different types
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About Human Genetic Disorders Any illness caused by abnormalities in
genes or chromosomes Most are rare May or may not be heritable
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Broad Types of Genetic Disorders
Single Gene Disorder – result of a single mutated gene. X-Linked Dominant – mutations on genes of the X
chromosme Men and women are equally likely to get it Rett Syndorme (degenerative brain disorder) Fragile X
X-Linked Recessive – again, mutations on the genes of the X chromosome Males way more likely to get these than women Duchenne Muscular Dystrophy Hemophilia
Y-Linked – mutations in genes on the Y chromosome ALL males will have these disorders Rare since the Y chromosome is small
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Autosomal dominant – only one mutated copy of the gene is needed Marfan Syndrome Huntington’s Disease Retinoblastoma
Autosomal recessive – two mutated copies of the gene are needed to be affected Sickle cell anemia Cystic fibrosis Tay-Sachs
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LET’S TAKE A LOOKInsight to a few human genetic disorders
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Achondroplasia
Mutation in a gene on chromosome #4 that makes a protein that is involved in converting cartilage to bone
A form of dwarfism
In MOST cases is it NOT inherited but in rare cases that it is, it is autosomal dominant
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Achondroplasia
Occurs in 1 in ever 15,000-40,000 live births
Often these children are born to normal sized parents
Not fatal No treatment but monitoring of height,
weight, and head circumference.
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Achondroplasia
Symptoms: Abnormal bone growth Short stature with disproportionately short
arms and legs Short fingers Large head Prominent forehead Bowed legs Weak muscles
Causes delays in walking and other motor skills
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Duchenne Muscular Dystrophy A disease characterized by progressive
loss of muscle function and weakness beginning in the lower limbs.
A sex-linked recessive disorder – body does not make the muscle protein dystrophin
Occurs mostly in boys Affects 1 in 3500 births
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Duchenne Muscular Dystrophy Symptoms (appear between ages 1-6):
Delays in motor skill milestones like sitting or walking
Progressive muscle weakness in the legs and pelvic muscles
Loss of muscle mass Abnormal bone development By age 10, leg braces are required for walking By age 12, confinement to a wheelchair In the early teens, complications due to an enlarged
heart appear and few individuals live past their 30’s/
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Turner’s Syndrome
A disease characterized by females having only ONE X-Chromosome instead of two The second X-Chromosome may be entirely
missing or severely mutated Causes delays in the development of
females
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Turner Syndrome
Occurs in 1 in ever 2500 births but is more common in non-surviving pregnancies
This is NOT an inherited disorder, it is due to nondisjunction during meiosis – chromosomes do not separate properly
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Turner Syndrome
Symptoms Extra skin on neck Short stature Swelling of hands and feet Skeletal abnormalities Heart defects Developmental delays Most females with this disease are infertile
and do not go through puberty unless they are given hormones
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Cri-du-Chat
Part of chromosome #5 is missing. The more genes missing, the more severe the symptoms
Characterized by infants with this syndrome having a high pitched cry that sounds like that of a cat
Occurs in 1 in every 20,000 – 50,000 births
NOT in inherited disorder
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Cri-du-Chat
Delayed development Small head size Low birth weight Weak muscle tone in infants Low set ears Widely set eyes Small jaw Round face Possibility of heart defects
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Huntington’s Disease
An autosomal dominant disorder caused by a CAG repeat on chromosome #4. Normally this gene should have 10-28 repeats but people with HD have between 36-120. The more repeats, the more likely your symptoms will start earlier and be more severe.
IS an inherited disorder. If one of your parents has it you have a 50% chance of getting it.
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Huntington’s Disease
Most common form begins in adults in their mid 30-40’s.
Symptoms Behavior changes
Hallucinations Moodiness Paranoia Psychosis
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Huntington’s Disease
Symptoms Dementia
Disorientation or confusion Loss of memory Loss of judgement Personality changes
Abnormal or Unusual Movements Jerky, sudden movements of the limbs Slow, uncontrolled movements Unsteady walk
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Huntington’s Disease
Can use a neurological exam, MRI, or genetic exam to detect symptoms
Eventually for a person with HD, 24 care will be needed and death occurs 15-20 years after the symptoms first present themselves
There is no treatment, it is 100% fatal however many different medications can be prescribed to treat the symptoms Antipsychotics Dopamine blockers
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HD BRAIN NORMAL BRAIN