Genetic Terminology
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| Allele | one of the alternative versions of a gene or DNA sequence at a given locus
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| Aneuploidy | any chromosome number that is not an exact multiple of the haploid number
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| Autosome | any nuclear chromosome other than the sex chromosomes
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| Chiasma | crossing of chromatid strands of homologous chromosomes; interchange of chromosomal material between members of a chromosomal pair
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| Chimera | individual composed of cells derived from two genetically different zygotes
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| Consanguineous | related by descent from a common ancestor
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| Dymorphism | morphological developmental abnormalities as seen in many syndromes of genetic or environmental origin
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| Heterozygote | an individual or genotype with two different alleles at a given locus on a pair of homologous chromosomes
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| Hirsutism | excessive or unwanted hair in women; hair is usually coarse and dark
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| Homozygote | an individual or genotype with identical alleles at a given locus on a pair of homologous chromosomes
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| Housekeeping genes | genes expressed in most or all cells because their products provide basic functions
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| Imprinting | the phenomenon of different expression of alleles depending on the parent of origin
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| Incompletely dominant | a trait that is inherited in a dominant manner but is more severe in a homozygote than in a heterozygote
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| Karyotype | the chromosomal constitution of an individual
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| Locus | the position occupied by a gene on a chromosome; different forms of the gene can occupy the locus
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| Lyonization | term used for the phenomenon of X inactivation
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| Mendelian | patterns of inheritance that follow the classic laws of Mendel -- autosomal dominant, autosomal recessive, and X-linked (dominant and recessive)
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| Monosomy | chromosome constitution in which one member of a chromosome pair is missing
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| Mosaic | an individual or tissue with at least 2 cell lines differing in genotype or karyotype, derived from a single zygote; not the same as chimera
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| Pluripotent | an embryonic cell this is capable of giving rise to different types of differentiated tissues or structures, depending on its location and environmental influences
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| Proband | the affected family member through whom the family is ascertained
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| Sibship | all the siblings in a family
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| Synpolydactyly | a birth defect of the hands and feet characterized by extra digits and the fusion of adjoining digits
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| Penetrance (mendelian) | proportion of individuals of a given genotype who outwardly show a certain trait or phenotype
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| Non-penetrance (mendelian) | lack of evidence of a particular phenotype when the genotype is present. An example is when there is no evidence of a genetic condition in the phenotype of a parent with an affected child
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| Expressivity (mendelian) | variations in clinical manifestations in patients having a particular genotype, usually dominant disorder; the phenotypic variations can range from severe to mild
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| Replicative segregation | lack of controlled segregation. Multiple copies replicate & sort randomly among newly synthesized mitochondria, resulting in some cells having more mutant than normal mit DNA. Mitochondria are distributed randomly between 2 daughter cells.
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| Homoplasmy (Mitochondrial inheritance) | daughter cell receives only normal or only mutant mtDNA
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| Heteroplasmy (Mitochondrial inheritance) | daughter cell receives a mix of mtDNA -- Severity of the disease is based on the ratio of mutant to normal mitochondrial DNA in a cell.
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| Mitochondrial Diseases | Many mutations are deletions associated w/ neurological or neuromuscular disorders. Others are point mutations that cause disease of CNS or musculoskeletal systems. many disorders are chronic, late- onset diseases.
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Created by:
Kanarema
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