1About how many known genetic diseases are there?
12,000
2What are genetic diseases usually caused by?
mutation in a gene
3disease causing alleles
cause heritable disease
4genetic risk factors
increased probability of developing disease and represent a heritable component of a complex disease; some MAY NEVER develop disease
6locus heterogeneity
one disease may be caused by mutations in different genes
7haplotype
contraction of haploid genotype, refers to linakge of alleles or markers on a single chromosome
8linkage disquilibrium
linkage at a population/subpopulation level
9gene therapy
fixing heritable disease using genetic engineering, introducting wildtype gene into somatic cells
10What are the majority of genetic abnormalities in pregnancy?
chromosome variations
11Types of genetic testing and screening
(protein) biochemical and immunological like western blotting, (DNA/chromosome) DNA seqeunce with PCR, in situ hybridization, karyotyping, DNA microarrays
12haplogroup
group of similar haplotypes from common ancestor; ex. mitochondrial (origin of modern humans), y chromosome (human migration)
13UPGMA
unweighted pair group method w/ arithmetic mean, numbers show perentages in compared genone regions, higher percentahe is higher relation
14molecular clocks
average number of mutation changes per time period, thus place divergence times on phylogenetic tree