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| a structure in the nucleus containing a linear thread of DNA which carries and transmits the genetic information of the cell. |
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| any chromosome other than the sex chromosome. Man has 22 pairs of autosomes |
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| Sex chromosome (XX or XY) |
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| chromosomes responsible for sex determination |
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| a segment of DNA molecule coded for the synthesis of a single polypeptide |
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| alternative forms of a gene occupying the same locus on homologous chromosomes |
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| the genetic constitution, or more specifically the genes present at one locus |
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| the position of a gene on a chromosome |
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| the entire physical, biochemical and physiological nature of an individual, as determined by his (her) genotype and the environment in which he (she) develops |
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| when the frequency of expression of a genotype is less than 100%, the trait is said to exhibit reduced penetrance. In an individual who has a genotype which characteristically produces an abnormal phenotype but who is phenotypically normal, the trait is said to be nonpenetrant |
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| the extent to which a gene is expressed. A trait with variable expressivity may range in expression from mild to severe |
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| the expression of a genetic so mild as to be of no clinical significance |
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| the chromosome set. the term is often used for photomicrographs of chromosomes arranged in a standard classification |
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| an individual tissue with at least two cells lines differing in genotype or karyotype, derived from a single zygote |
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| the family member who first draws attention to a pedigree of a given trait |
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| an agent that produces or raises the incidence of congenital malformation |
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| trait must appear in every generation without a skip; trait is transmitted by an affected person to one-half of the children; unaffected persons do not transmit the trait; males and females are equally affected |
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| trait tends to appear only in siblings, not in their parents, offspring or other relatives; one-fourth of the siblings of the affected person are also affected; the parents of the affected child may be of the same ancestor; males and females are affected equally |
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| trait will be inherited directly from person to person without breaks in the kindred line; affected males married to normal females will pass the trait to all their daughters but none of their sons; affected females married to normal males will pass the trait equally to sons and daughters; in the population as a whole there will be about 2x as many affected females as males |
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| incidence of the trait is higher in males; trait is passed by an affected male through all his daughters to one-half of her sons; trait is never transmitted from father to sons |
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| What disease is a Hb B mutation of glutamic acid to valine which creates a hydrophobic spot causing clumping of Hb? |
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Definition
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| T/F Marfan Syndrome, Ehlers Danlos Syndrome, OI, NF, and FH are all autosomal recessive diseases? |
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Definition
| F...they are all autosomal dominant |
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| Amelogenesis Imperfecta have three genes that may be affected...what are they and what do they do? |
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| (1)Enam gene: defect in enamel (autosomal dominant or recessive) (2)Amelx gene: defect in amelogenin (x-linked) (3) MMP20: enamalysin defect (autosomal recessive) |
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| What are the types of cytogenic abnormalities? |
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Definition
| translocation, monosomy (loss of whole chromosome), trisomy, chromosomal deletions (interstitial and terminal segment of arm), chromosomal inversions, ring chromosomes, isochromosome |
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| T/F Hunters dx, myotonic dx, and fragile X dx are all caused by triplet repeat mutations? |
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Definition
| F....not hunter's dx --> huntington dx |
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| T/F cystic fibrosis is a congenital dx that is autosomal recessive and causes defect in secretion of exocrine glands. |
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