Human Genetics

12,000

mutation in a gene

cause heritable disease

increased probability of developing disease and represent a heritable component of a complex disease; some MAY NEVER develop disease

family tree

one disease may be caused by mutations in different genes

contraction of haploid genotype, refers to linakge of alleles or markers on a single chromosome

linkage at a population/subpopulation level

fixing heritable disease using genetic engineering, introducting wildtype gene into somatic cells

chromosome variations

(protein) biochemical and immunological like western blotting, (DNA/chromosome) DNA seqeunce with PCR, in situ hybridization, karyotyping, DNA microarrays

group of similar haplotypes from common ancestor; ex. mitochondrial (origin of modern humans), y chromosome (human migration)

unweighted pair group method w/ arithmetic mean, numbers show perentages in compared genone regions, higher percentahe is higher relation

average number of mutation changes per time period, thus place divergence times on phylogenetic tree