基因突变、多态性及疾病基因的定位和鉴定.pptVIP

Gene Mutation, Polymorphism, Gene mapping and identification;General organization of human genome;持家基因/ 奢侈基因;等位基因/ 基因座/ 基因型/ 表型; A striking feature of natural populations is a large amount of variability between individuals. This applies to all organisms including humans. Phenotypic variability--Differences in observable characteristics (e.g., weight, height, eye color, disease state) caused by interactions of genetic and environmental factors. Genetic variability--Differences in genetic makeup of individuals due to mutations and polymorphisms. Variability ensures some members survive in different environmental conditions.;From Genotype to Phenotype;;Phenotype “begins” within a cell;Genomic era in biology medicine;metabolome; Mutations may or may not result in an expressed phenotype.;point mutations: change in one base pair of DNA.;Silent mutation;Chromosomal mutations; ‘Mutations’ that are propagated and maintained in the population at relatively high frequencies are called polymorphisms. Polymorphism is defined as the existence of two or more alleles, where the rare allele appears with a frequency greater than 1% in the population. Most mutations are quickly lost from population due to deleterious effects (natural selection) or genetic drift (random fluctuations). Mutations may become polymorphisms due to selective advantage (heterozygotes for hemoglobin sickle cell mutation are more resistant to malaria) or genetic drift (founder effect, small group of individuals found a new population).;A SNP is a source variance in a genome. A SNP is a single base mutation in DNA. SNPs are the most simple form and most common source of genetic polymorphism in the human genome (90% of all human DNA polymorphisms). There are two types of nucleotide base substitutions （置换）resulting in SNPs: Transition（转换）: substitution between purines (A, G) or between pyrimidines (C, T). Constitute two thirds of all SNPs. Transversion（颠换）: substitution between