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Genetics terms & Dzs

Genetics terms and diseases that matter

Variable expression Nature and severity of phenotype vary from person to person with the same mutation (NF1)
Incomplete penetrance (incomplete penetance) Some individuals with mutation have the disease Some individuals with the mutation don't have the disease.
Pleitropy 1 gene causes many phenotypic changes (Phenylketonuria)
Dominant negative mutation mutant, non-functional gene, inhibits production of normal, functional gene
Linkage disequalibrium 2 linked loci occur together more often than expected
Locus Heterogeneity Mutations at different loci can produce the same phenotype (Marfans, MEN2B, homocystinuria all cause marfan habitus)
Heterplasmy Mosaicism of mutant and normal mitochondrial DNA
Uniparental disomy receiving both copies of one gene from the same parent
Imprinting Differences in phenotype depend on whether the mutation is of maternal or paternal origin (Prader-Willi or Angelman's syndrome)
Mental retardation, hyperphagia, obesity, hypogonadism, hypotonia Prader-Willi syndrome. Deletion of normally active Paternal Allele on Chr. 15
Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Angelman's syndrome. Deletion of normally active Maternal Allele on Chr. 15
Created by: spud5892