Codominance: Neither of 2 alleles is dominant.
Variable Expression: Nature and severity of phenotype vary from one individual to another.
Incomplete Penetrance: Not all individuals with mutant genotype show a mutant phenotype.
Pleiotropy: One gene has more than one effect on an individual’ phenotype.
Imprinting: Differences in phenotype depend on whether the mutation is of maternal or paternal origin.
Anticipation: The severity of disease worsens or age of onset of disease is earlier in succeeding generation.
Loss of heterozygosity: If a patient inherits or develops a mutation in a tumor suppressor gene, the complementary allele must be deleted/mutated before cancer develops. This is not true in oncogenes.
Dominant negative mutation: Exerts a dominant effect. A heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning.
Linkage disequilibrium: Tendency for certain alleles at two linked loci to occur together more often than expected by chance. Measured in the population, not in a family, and often vary in different populations.
Mosaicism: Occur when cells in the body have different genetic makeup.
Locus heterogeneity: Mutations at different loci can produce same phenotype.
Heteroplasmy: Presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrial inherited disease.
Uniparental disomy: Offspring receive two copies of a chromosome from one parent and no copies from the other parent.
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