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13 Cards in this Set
- Front
- Back
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First to discover genetic disease |
Sir Archibald Edward Garrod. He coined the term "inborn error of metabolism" |
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Alkatonuria |
Body cannot process phenylalanine and tyrosine |
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Sickel cell anemia |
Beta haemoglobin gene mutation in chromosome 11 |
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Effects of sicke cell anemia |
Clogs blood vessels Inefficient oxygen supply Reduced life span of rbc Above effects : Shortness of breathe and fatigue Delayed growth in children Organ damage (kidney ,liver,brain) |
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Phenylketonuria |
Mutation on chromosome 12 which codes for phenlyalanine hydroxylase |
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Effect of PKU |
PAH enzyme unable to breakdown phenlyalanine . Accumulation builds up and poisons nerve cells |
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Down's syndrome |
Presence of 3 copies of chromosome 21 (John Langdon Down) |
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Effect of down's syndrome |
Delayed physical growth Short stature ,short wide neck Delayed physical growth Short stature ,short wide neck Small ears small round head Parially open mouth Small ears small round head Parially open mouth Mild to moderate intellectual ability |
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Klinefelter syndrome KS |
XXY two or more x chromosome in males |
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Turner syndrome |
X0 missing x chromosome in female |
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Mitochondrial genetic disorders |
Mutations in either mitochondrial DNA or nuclear DNA that leas to dysfunction of mitochondria |
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Multifactorial inheritance disorders |
Caused by combination of small inherited variations in genes together with environmental and life style Heart disease,diabetes,cancer etc |
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Reduce prevalance of gentic diseases |
UAE Genetic Diseases Association Pre natal testing and diagnostic tests Avoid consanguineous marriage Genetic counselling |
