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28 Cards in this Set
- Front
- Back
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microdeletion
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chromosomal deletion spanning several genes that is too small to be detected under a microscope
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contiguous gene syndrome
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microdeletion that spans two or more genes tandemly positioned along a chromosome
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anomoay in Klinefelter's?
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XXY
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anomaly in Turner's?
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XO
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what anomalies does karyotyping find?
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monosomy,trisomy
big deletions duplications rearrangements |
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what anomalies does FISH find?
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microdeletions and duplications
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nonsense
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nucleotide changed to a stop codon
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stop codon mutation
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nucleotide changed to eliminate stop codon
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common examples of autosomal recessive diseases?
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tay sachs
phenyllketonuria sickle cell anemia CF friedreich ataxia maple syrup urine disease |
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common examples of autosomal dominant diseases?
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neurophakomatoses
tuberous sclerosis neurofibromatosis huntington's spinocerebellar ataxia lissencephaly holoprosencephaly hypoventilation syndrome |
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homeobox genes?
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active during development and responsible for cell signaling and organ shape and formation
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common examples of X-linked diseases?
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hemophilia
fragile X duchenne muscular dystrophy ornithine transcarbamylase deficiency |
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anticipation
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worsening of disease manifestations with earlier onset over generations and/or increase in frequency
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examples of unstable trinucleotide repeats.
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myotonic dystrophy
huntington's friedreich ataxia fragile X |
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problem in myotonic dystrophy?
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CTG repeat in 3' region of myotonin kinase
typical disease over 200 repeats transcribed not translated gain of function- interferes with transcription and RNA processing of other genes |
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problem in huntington's?
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CAG repeat in exon 1
typical disease over 40 repeats transcribed and translated gain of function-abnormal toxic protein interaction |
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problem in friedreich ataxia?
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GAA expansion in intron of frataxin gene
typical disease over 800 repeats loss of function- transcription/mRNA processing of mit. protein involved in iron processing |
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problem in fragile X?
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CGG repeat in promoter region of FMR1 gene
55-200 leads to FXTAS, over 200 leads to FXS transcribed not translated FXS has loss of function- reduced levels of FMRP produced, synaptic plasticity FXTAS has gain of function- G repeat interacts with nuclear proteins to disturb function |
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imprinting
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genes are marked so as to have different activity on maternally and paternally derived chromosomes
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example of imprinting disease?
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prader willi-failure to thrive, later obesity, bx problems, small hands and feel
angelman syndrome- developmental delay, ataxia, seizures, severe MR, dysmorphic features |
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difference in inheritance for prader willi vs. angelman?
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both have deletion on same area but PWS has a paternal deletion and maternal disomy
AS has a maternal deletion and paternal disomy |
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what effects do mit. DNA mutations have?
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affect respiratory chain function
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common example of germline mosaicism?
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Duchennel Becker dystrophy
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example of unequal crossover?
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duplication of PMP20 gene in Charcot-Marie-Tooth Type 1 and corresponding deletion in hereditary neuropathy with pressure palsies
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examples of incomplete penetrance?
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hereditary dystonia type 1
familial seizures tourette's parkinson's GTP cyclohydrolase def. |
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example of E modifier mechanism?
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adrenoleukodystrophy
narcolepsy |
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example of additive gene disease?
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Bardet-Biedl syndrome
6 genes involved |
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what is the most common kind of inheritance?
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multifactorial trait inheritance
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