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Chapter 15 - Human Disorder Chart

Chapter 15 - Human Disorder Chart - damage Heterozygote is...

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AUTOSOMAL DOMINANT DISORDERS Brain deteriorates starting about age 30-40. Lose ability to walk, talk, think; early death; Caused by extra CAG repeats in the code HUNTINGTON’S AUTOSOMAL DOMINANT “Dwarfism”; defect in bone formation causing normal sized head/torso, but short arms/legs ACHONDROPLASIA AUTOSOMAL DOMINANT AUTOSOMAL RECESSIVE DISORDERS Protein for transporting Cl ions doesn’t work; Thick mucous clogs lungs and digestive organs CYSTIC FIBROSIS AUTOSOMAL RECESSIVE Disorder in which lipids accumulate in the brain causing retardation, blindness and early death TAY-SACHS AUTOSOMAL RECESSIVE Eating foods containing phenylalanine causes mental retardation; enzyme to break down phenylalanine doesn’t work; All babies born in SD are tested for this PHENYLKETONURIA (PKU) AUTOSOMAL RECESSIVE AUTOSOMAL CODOMINANT DISODERS Abnormal hemoglobin protein causes red blood cells to sickle; causes circulatory problems and organ
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Unformatted text preview: damage; Heterozygote is resistant to malaria SICKLE CELL DISEASE AUTOSOMAL CODOMINANT X-LINKED RECESSIVE X-linked recessive disorder in which the protein that clots blood is missing causing excessive bleeding after injuries HEMOPHILIA X-LINKED RECESSIVE Progressive weakening and loss of skeletal muscles causing paralysis and eventual death DUCHENNE MUSCULAR DYSTROPHY X-LINKED RECESSIVE Inability to distinguish the colors (especially red from green) COLORBLINDNESS X-LINKED RECESSIVE NON-DISJUNCTION DISORDERS Trisomy-21; Three #21 chromosomes; characteristic facial features; slanted eyes; mental retardation; some heart defects DOWN SYNDROME NONDISJUNCTION X0 females; females have only one X chromosome; infertility; TURNER SYNDROME NONDISJUNCTION Males with extra X chromosomes (XXy, XXXy, XXXXy); infertility; males with some female characteristics; KLINEFELTER’S SYNDROME NONDISJUNCTION...
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Chapter 15 - Human Disorder Chart - damage Heterozygote is...

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