Genetics2 - Autosomal Recessive Disorders Tay-Sachs Disease...

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Autosomal Recessive Disorders Tay-Sachs Disease Fatal, progressive disease of CNS Lack an enzyme called hexosaminidase A (hex A) necessary for breaking down lipids in brain and nerve cells - Chromosome 15 onset at 4 to 6 months of age baby stops smiling, crawling or turning over, loses its ability to grasp or reach out and, eventually, becomes blind, paralyzed and unaware of its surroundings. Death occurs by age 5. Cherry-red spot on retina; no treatment Rare in general population (1 in 300 carrier) High in Ashkenzai Jews (1 in 30 carrier), French- Candians (Quebec), Cajuns (Louisiana)
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Autosomal Recessive Disorders Cystic Fibrosis (CF) Most common genetic disorder among U.S. Caucasians; Chromosome 7 Abnormal Cl- transport --> Mucus in bronchial tubes and pancreatic ducts is particularly thick and viscous Mucus clogs the lungs and leads to life-threatening lung infections; and obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food Life span to 35 years; 1 in 20 carrier - 1 in 3,000 diseased - 30,000 children and adults in the United States (70,000 worldwide)
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Autosomal Recessive Disorders Phenylketonuria (PKU) Lack enzyme (phenylalanine hydroxylase) for normal metabolism of phenylalanine 1 in 14,000 affected; All newborns screened Phe present in nearly all foods. Without treatment, phe builds
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Genetics2 - Autosomal Recessive Disorders Tay-Sachs Disease...

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