Genetic Disorders Flashcards
Cystic Fibrosis
recessive alleles; excess mucus in lungs, digestive tract, and liver; increased chance of infection; most common fatal disorder
Albinism
recessive alleles; lack of pigment in skin, hair, and eyes
Galactosemia
recessive allele; accumulation of galactose(sugar) in tissues; mental retardation; eye and liver damage
Phenylketonuria (PKU)
recessive allele; accumulation of phenytalanine(protein) in tissue; causes grey color to skin; mental retardation; affects 1 in 15,000; can be treated w/ diet restrictions
Tay-Sachs Disease
recessive allele; lipid accumulation in brain cells; causes mental deficiency, blindness, and death in early childhood; most common in Eastern European Jews
Achondroplasia
dominant allele; one form of dwarfism
Huntington’s Disease
dominant allele; mental deterioration and uncontrollable movements; symptoms usually appear in middle age
Hypercholesterolemia
dominant allele; excess cholesterol in blood; heart disease
Sickle Cell Disease
incomplete dominance; misshapen or sickled red blood cells; damage to many tissues; affects people of African descent in higher frequency
Colorblindness
located on X chromosome; inability to distinguish certain colors; most commonly red/green
Hemophilia
located on X chromosome; protein necessary for clotting is not produced; can be treated with injects of normal clotting protein
Duchenne Muscular Dystrophy
located on X chromosome; results in progressive weakening and loss of skeletal muscle
Down Syndrome
nondisjunction concerning Chromosome 21; mild to severe retardation; susceptible to many disorders; high frequency of birth defects
Turner’s Syndrome
nondisjunction when a female only has one X chromosome; women are sterile and unable to reproduce; XO; diploid # is 45
Klinfelter’s Syndrome
nondisjunction where male has two X chromosomes; XXY; unable to reproduce; usually tall and slender with slight mental retardation; diploid # is 47
