【英文ppt课件】Stature in adolescent twins.pptVIP

Figure 7: Intermediate phenotypes Mechanism Time Gene ? Biochemical trait ? Physiological trait Disease trait Hypertension: “Intermediate” phenotypes and candidate genes. Tyrosine hydroxylase C-824T ? ? Catecholamines ? ? Baroreceptor function ? Stress blood pressure ? ? Hypertension pter ? qter 5’ ? 3’ Chromosome Paternal Maternal T C A G C T G A Haplotype: Ordered array of alleles along a single chromosome. Biallelic SNPs (single nucleotide polymorphisms). Typically “transitions”: Purine ? Purine (G ? A) Pyrimidine ? Pyrimidine (C ? T) 5’ ? 3’ Paternal Maternal T A C G T A C G C G T C C G T A “Linkage disequilibrium” (LD): Local, marker-on-marker locus Equilibrium = randomness (no correlation, r2=0) Disequilibrium = non-random (correlated, r20) Marker-on-trait locus: Mapping tool 0.9 0.9 0.9 0.0 0.9 0.9 0.9 0.5 0.5 0.0 Ancestral (shared) Meiotic recombination r2 Biallelic SNPs In population genetics, linkage disequilibrium is the non-random association of alleles at two or more loci. Linkage disequilibrium describes a situation in which some combinations of alleles or genetic markers occur more or less frequently in a population than would be expected from a random formation of haplotypes from alleles based on their frequencies. Non-random associations between polymorphisms at different loci are measured by the degree of linkage disequilibrium (LD). The level of linkage disequilibrium is influenced by a number of factors including the rate of meiotic recombination (crossovers) and the rate of mutation. Linkage disequilibrium (LD). Marker ? trait Marker ? marker HapMap: View variation patterns Triangle plot shows LD values using r2 or D’/LOD scores in one or more HapMap population The International HapMap Project(Identification of SNPs that ‘tag’ hapl