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16 Cards in this Set
- Front
- Back
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Cytogenetics
(karotyping) *diagnostic method |
the examination of chromosomes by light microscopy (chromosomal analysis)
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Biochemical genetics
*diagnostic method |
the detection of abnormally high or low levels of proteins & other substances
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DNA analysis of chromosomes
(molecular genetics) *diagnostic method |
DNA sequences are identified in individual genes by chemical analysis (most advanced research)
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A mutation
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a permanent, transmissible change affecting (usually) a single gene
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Autosomal
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genetic defects in autosomes
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Chromosomal aberrations
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variations from the expected number & composition of chromosomes
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Nondisjunction
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failure of chromosomes to divide & then pair up correctly during mitosis or meiosis
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Gene
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a functional unit of heredity
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Genotype
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chromosomal makeup
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phenotype
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physical appearance & biochemical composition & function
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aneuploidy
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an abnormal number of chromosomes (more or less than the expected 46)
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Trisomy
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when 3 copies of chromosomes occur rather than two resulting in a total of 47
(Down syndrome) |
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Monosomy
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chromosome total is 45 rather than 46
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Congenital disorders
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present at birth - not necesarily hereditary
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Hereditary disorders
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inherited from one or both parents.
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Name 3 basic laboratory methods of genetic diagnosis
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Karyotyping (ctyogenetics)
Biochemical genetics DNA analysis (molecular ) |
