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MK Genetics

Genetic Terminology

QuestionAnswer
Allele one of the alternative versions of a gene or DNA sequence at a given locus
Aneuploidy any chromosome number that is not an exact multiple of the haploid number
Autosome any nuclear chromosome other than the sex chromosomes
Chiasma crossing of chromatid strands of homologous chromosomes; interchange of chromosomal material between members of a chromosomal pair
Chimera individual composed of cells derived from two genetically different zygotes
Consanguineous related by descent from a common ancestor
Dymorphism morphological developmental abnormalities as seen in many syndromes of genetic or environmental origin
Heterozygote an individual or genotype with two different alleles at a given locus on a pair of homologous chromosomes
Hirsutism excessive or unwanted hair in women; hair is usually coarse and dark
Homozygote an individual or genotype with identical alleles at a given locus on a pair of homologous chromosomes
Housekeeping genes genes expressed in most or all cells because their products provide basic functions
Imprinting the phenomenon of different expression of alleles depending on the parent of origin
Incompletely dominant a trait that is inherited in a dominant manner but is more severe in a homozygote than in a heterozygote
Karyotype the chromosomal constitution of an individual
Locus the position occupied by a gene on a chromosome; different forms of the gene can occupy the locus
Lyonization term used for the phenomenon of X inactivation
Mendelian patterns of inheritance that follow the classic laws of Mendel -- autosomal dominant, autosomal recessive, and X-linked (dominant and recessive)
Monosomy chromosome constitution in which one member of a chromosome pair is missing
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
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
Proband the affected family member through whom the family is ascertained
Sibship all the siblings in a family
Synpolydactyly a birth defect of the hands and feet characterized by extra digits and the fusion of adjoining digits
Penetrance (mendelian) proportion of individuals of a given genotype who outwardly show a certain trait or phenotype
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
Expressivity (mendelian) variations in clinical manifestations in patients having a particular genotype, usually dominant disorder; the phenotypic variations can range from severe to mild
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.
Homoplasmy (Mitochondrial inheritance) daughter cell receives only normal or only mutant mtDNA
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.
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.
Created by: Marnie Kanarek Marnie Kanarek on 2011-07-10



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