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Genetic Disorders
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28
Biology
9th Grade
01/13/2008

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Term
HUNTINGTON'S DISEASE SYMPTOMS
Definition
Gradual deterioration of brain tissue in middle age; shortened life expectancy
Term
HUNTINGTON'S DISEASE DEFECT
Definition
Production of an inhibitor of brain cell metabolism
Term
HUNTINGTON'S DISEASE PATTERN OF INHERITANCE
Definition
Autosomal Dominant
Term
HUNTINGTON'S DISEASE FREQUENCY
Definition
1/10,000
Term
CYSTIC FYBROSIS SYMPTOMS
Definition
Mucus clog lungs, liver, and pancreas;
Usually no survival to adulthood
Term
CYSTIC FYBROSIS DEFECT
Definition
Failure of chloride ion transport mechanism
Term
CYSTIC FYBROSIS FREQUENCY
Definition
1/2,080 Whites
Term
SICKLE CELL ANEMIA SYMPTOMS
Definition
impaired blood circulaqtion, organ damage
Term
SICKLE CELL ANEMIA DEFECT
Definition
Abnormal hemoglobin molecules
Term
SICKLE CELL ANEMIA PATTERN OF INHERITANCE
Definition
Autosomal recessive
Term
SICKLE CELL ANEMIA FREQUENCY
Definition
1/500 African Americans
Term
TAY-SACHS DISEASE SYMPTOM
Definition
Deterioration of central nervous system in infancy; death occurs in early childhood
Term
TAY-SACHS DISEASE DEFECT
Definition
Defective form of enzyme hexosaminidase A
Term
TAY-SACHS DISEASE PATTERN OF INHERITANCE
Definition
Autosomal Recessive
Term
TAY-SACHS DISEASE FREQUENCY
Definition
1/1,600 Jews of European Descent
Term
PHENYLKETONURIA SYMPTOMS
Definition
Failure of brain to develop in infancy; if untreated, causes death in childhood
Term
PHENYLKETONURIA DEFECT
Definition
Defective form of enzyme phenylalanine hydroxylase
Term
PHENYLKETONURIA PATTERN OF INHERITANCE
Definition
Autosomal Recessive
Term
PHENYLKETONURIA FREQUENCY
Definition
1/18,000
Term
HEMOPHILIA SYMPTOMS
Definition
Failure to clot blood
Term
HEMOPHILIA DEFECT
Definition
Defective form of blood-clotting factor
Term
HEMOPHILIA PATTERN OF INHERITANCE
Definition
X-Linked Recessive
Term
HEMOPHILIA FREQUENCY
Definition
1/7,000
Term
MUSCULAR DYSTROPHY SYMPTOMS
Definition
Wasting away of muscles; shortened life expectancy
Term
MUSCULAR DYSTROPHY DEFECT
Definition
Muscle fibers degenerate
Term
MUSCULAR DYSTROPHY PATTERN OF INHERITANCE
Definition
X-Linked Recessive
Term
MUSCULAR DYSTROPHY FREQUENCY
Definition
1/10,000
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