Term
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Definition
| an individual with 2 different mutant alleles at the same locus |
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Term
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Definition
| a single gene has diverse effects on multiple organ systems |
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Term
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Definition
| similar phenotypes caused by mutations at DIFFERENT genetic locations |
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Term
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Definition
| similar or identical phenotypes caused by different mutant alleles at the same locus |
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Term
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Definition
| a condition which is due to environmental factors, but resemebles one that is genetic |
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Term
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Definition
| proportion of heterozygotes for a dominant gene who express the trait |
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Term
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Definition
| the spectrum and severity of phenotypic features associated wth a particular disorder |
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Term
| clinical features of Marfan syndrome |
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Definition
| tall, thin, scoliosis, pectus, long fingers, myopia, dislocated lenses, aortic dilation, dissections, aneurysms, mitral valve prolapse |
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Term
| etiology of Marfan syndrome |
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Definition
| disorder of fibrillin, mutation in FBN1 gene, most are family specific (no common mutations), autosomal dominant |
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Term
| clinical features of Neurofibromatosis-1 |
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Definition
| cafe au lait macules, neurofibromas, plexiform neuromas, lisch nodules, learning disabilities, ADHD, increased tumor risk |
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Term
| etiology of neurofibromatosis-1 |
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Definition
| mutations in NF1 tumor suppressor gene, autosomal dominant |
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Term
| clinical features of achondroplasia |
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Definition
| short, large heads, 100% penetrance |
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Term
| etiology of achondroplasia |
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Definition
| point mutation in FGFR3, paternal age effect, new mutation rate 80%, autosomal dominant |
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Term
| clinical features of hemochromatosis |
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Definition
| excess Fe absorption in GI tract, heart failure, cirrhosis, diabetes, hormone deficiency, bronze skin |
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Term
| etiology of hemochromatosis |
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Definition
| high carrier frequency, mutation in HFE gene, autosomal recessive |
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Term
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Definition
| female mosaicism due to x-inactivation |
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Term
| clinical features of duchenne muscular dystrophy |
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Definition
| early onset, non-ambulatory teens, 1/3 have cognitive delays, cardiomyopathy |
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Term
| etiology of duchenne muscular dystrophy |
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Definition
| many new mutations in dystrophin gene, large deletions in 2/3 pts, mutation often in spermatogenesis in grandfather, x-linked recessive |
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Term
| clinical features of G6PD deficiency |
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Definition
| neonatal jaundice, hemolytic anemia, environmental precipitants: druges, illnesses, fava beans, resistance to falciparum malaria in heterozygotes |
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Term
| etiology of G6PD deficiency |
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Definition
| enzyme deficiency in pentose-phosphate shunt, x-linked recesseive |
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Term
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Definition
| urea cycle defect, vomiting, lethargy, coma, hperammonemia |
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Term
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Definition
| chromosomes become visible as they start to condense |
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Term
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Definition
| each pair of homologous chromosomes known as a bivalent, becomes tightly coiled and crossing-over occurs |
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Term
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Definition
| homologous chromosomes align directly opposite each other in a process called synapsis and are held together by synaptonemal complexes |
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Term
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Definition
| separation of homologous chromosome pairs as chromosomes become maximally condensed |
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Term
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Definition
| homologous recombinant chromosomes begin to spearate but remain attached at the point(s) where crossing over occurred |
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Term
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Definition
| 5 stages of crossing-over/recombination in meiosis |
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Term
| Leber's hereditary optic neuropathy (LHON) |
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Definition
| first mitochondrial disease indentified; central loss of vision secondary to optic nerve degeneration between 12 and 30 years of age |
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Term
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Definition
| myoclonic seizures, muscle weakness, dementia, short stature, episodic vomiting, mitochondrial inheritance |
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Term
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Definition
| mitochondrial myopathy, seizures, mental retardation, lactic acidosis, stroke-like episodes, short stature, repeat vomiting |
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Term
| KSS (Kearns-Sayre syndrome) |
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Definition
| spectrum of disease involving paralysis of eye muscles, cardiac arrhythmias, lactic acidosis, myopathy, mitochondrial |
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Term
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Definition
| subacute necrotizing encephalomyelopathy |
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