This video covers Dominant-negative mutations, linkage disequilibrium, mosaicism, locus heterogeneity, allelic heterogeneity, heteroplasmy, and uniparental disomy.
Dominant-negative mutations:
- heterozygotic makes a protein that stops the function of normal protein
Linkage disequilibrium:
- variation of 2 linked genes to occur together
Mosaicism:
- two cell lines in the same organism
- somatic - mitotic errors after fertilization
- gonadal - mutation in egg or sperm
Locus heterogeneity:
- mutations at different loci result in a similar phenotype
Allelic heterogeneity:
- One phenotype from different mutations in the same locus
Heteroplasmy:
- normal and mutated mitochondrial DNA (mtDNA)
Uniparental disomy:
- 2 copies of chromosomes from 1 parent, none from the other
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