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11 terms

gene and chromosome mutations

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phenylketonuria (PKU)
autosomal recessive. cannot breakdown phenylalanine amino acid, consumption of phenylalanine leads to mental retardation
cystic fibrosis
autosomal recessive. 1 out of 25 caucasians is a carrier. build-up of extracellular fluid in the lungs
Tay-Sachs Disease
autosomal recessive. onset is early in life and is caused by a lack of the enzyme necessary to break down liids necessary for normal brain function. ashkenazi jews.
Huntington's Disease
autosomal dominant. a degenerate disease of the nervous system resulting in certain and early death. Onset is usually in middle age.
Hemophilia
sex-linked recessive. caused by the absence of one or more proteins necessary for normal blood clotting
color blindness
sex-linked recessive. red-green color blindness.
Duchenne muscular dystrophy
sex-linked recessive. progressive weakening of msucle control and loss of coordination.
Sickle cell disease
autosomal recessive. a mutation in the gene for hemoglobin reults in deformed red blood cells. Carriers of the sickle cell trait are resistant to malaria.
down syndrome
chromosomal disorder. trisomy 21. facial features
turner's syndrome
chromosomal disorder. XO, 45 chromosomes due to a missing sex chromosome.
klinefelter's syndrome
chromosomal disorder. XXY 47 chromosomes due to an extra X chromosome. male genitals, but the testes are abnormally small and the males are sterile.