Term
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Definition
| marker for gene microdeletion/microduplication; must know the exact sequence to look for - used for confirmation; second sequence used for unaffected region to confirm chromosome |
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Term
| centromeric specific probes |
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Definition
| allow detection of aneuploidy; each centromere has a unique sequence |
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Term
| telomeric probes for specific chromosomes |
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Definition
| diagnosis of subtelomeric deletions and translocations - diagnosing unexplained translocation |
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Term
| whole chromosome painting |
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Definition
| cocktail of different sequences on chromosome with same color - used to detect subtle translocations or fragments |
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Term
| multicolor spectral karyotyping and multicolor fish |
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Definition
| use pools of paint probes to label all chromosomes >> computerized image analysis program can then identify chromosomes based on fluorescent patterns |
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Term
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Definition
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Term
| x-linked dominant inheritance |
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Definition
| superficially resembles an autosomal dominant trait with some distinction (RARE) - less severe symptoms than men |
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Term
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Definition
| two traits only - hairy ears/azospermia |
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Term
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Definition
| pseudoautosomal region locations - (x-linked in some/autosomal in others) - this region is not inactivated |
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Term
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Definition
| descended from the same ancestor |
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Term
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Definition
| both alleles are expressed |
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Term
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Definition
| dominant allele allows secretion of ABO antigen (only SS or Ss)20% do not express this locus |
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Term
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Definition
| person does not produce H substance - cannot add Fucose to H Substance Precursor; person still tests as type O; must give bombay blood |
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Term
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Definition
| increaseing severity or earler age in successive generations |
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Term
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Definition
| ???only a certain number of somatic cells affected |
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Term
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Definition
| ?????cause of autosomal dominant disorders among siblings even though both parents lack the disorder (affects multiple gametes - no history of family) |
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Term
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Definition
| an individual has a set of homologs that came from the same parent; must have a loss of homolog from other parent OR these disomic gametes must have partnered with complimentary nullisomic gamete (otherwise the embryo is not viable) |
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Term
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Definition
| error in meiosis II resulting in two copies of the same homolog in gamete; recessive trait can be expressed |
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Term
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Definition
| error in meiosis I resulting in both homologs from a single parent |
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Term
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Definition
| effect of a mutation is dependent upon from which parent the trait has inherited - only a few traits |
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Term
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Definition
| paternal inheritance - constant eating - deletion on chromosome 15 |
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Term
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Definition
| maternal inheritance - people are always happy no matter what - deletion on chromosome 15 |
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Term
| mitochondrial inheritance |
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Definition
| maternal inheritance (very few from dad) - higher rate of mutations = aging; males will not pass it on |
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Term
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Definition
| affect tissues with high energy needs (muscle, nervous) |
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