Term
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Definition
| flies heterozygous for a duplicated gene have a bar shaped eye instead of a normal one; have 3 alleles=normal + duplicate;flies homozygous for this mutation contain 2 duplicates and have a very small undeveloped eye |
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Term
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Definition
| Progressive deterioration of nervous system;onset age 30-50;duration 10-15 years ending in death;trinucleotide repeat CAG |
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Term
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Definition
| connective tissue disorder;caused by deficiency of fibrillin;skeleton, lens of eye, CV system;tall with long thin fingers and arms |
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Term
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Definition
| protein affected is fibroblast growth factor receptor/interferes with cartilage production;head and trunk normal, long bones don't grow |
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Term
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Definition
| most common mutation-3 base deletion;protein affected in an ion channel, 1480aa, that regulates flow of salt through epithelial cell membranes |
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Term
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Definition
| single point mutation in hemoglobin gene; causes protein to become sticky, especially without oxygen bound to it; anemia, pain, and O2 deprivation of tissues |
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Term
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Definition
| catabolism of adenosine to uric acid is blocked; deoxyadenosine accumulates, kills helper T cells |
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Term
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Definition
| no synthesis of hexosaminidase A; excess fatty acids accumulate, nerve cells killed |
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Term
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Definition
| 2nd leading cause of mental retardation after Down Syndrome; Dominant instead of recessive x-linked inheritance; male inherits-female variable due to Barr body |
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Term
| Duchenne Muscular Dystrophy |
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Definition
| loss of muscle function starting with voluntary muscles, then involuntary; age of onset-early; life expectancy <30years; gene for large protein dystrophin is mutated; protein is defective-fails to anchor cytoskeleton to membrane proteins-cells die; weakens muscle fibers |
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Term
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Definition
| failure of blood to clot, lack of factor VIII |
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Term
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Definition
| weakness of muscles and other effects; repeat is in 3' untranslated region of gene for protein kinase: CTG |
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Term
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Definition
| cancer of the retina of the eye; usually ages 1-3; 40% inherited susceptability, 60% sporadic |
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Term
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Definition
| greatly increases susceptability to cancer; linked to germ-line mutations of p53 tumor suppressor gene |
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Term
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Definition
| XO; only monosomy in humans; female, sterile, short webbed neck, broad chest, short, majority aren't born |
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Term
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Definition
| XXY, XXXY, etc.; male in appearance, some feminization, sterile, slow to learn but not retarded |
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Term
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Definition
| malformed larynx produces cat-like cry |
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Term
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Definition
| some phenotypically normal, others sterility, mental retardation |
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Term
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Definition
| taller than average, average IQ; no correlation with inmates |
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