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MK Genetics
Genetic Terminology
| Question | Answer |
|---|---|
| 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:
Kanarema
Popular Genetics sets