基因、基金组异常与疾病分析.pptVIP

Chapter 16 Gene、Genome and Diseases Based on the genomics,?from the point of view of?health and disease,?human diseases?is related with gene directly or indirectly,?such as all of genetic?disease?are the result of?the abnormal gene structure?or gene expression;?some?diseases are?the result of genetic factors and environmental factors?,?such as smoking?caused lung cancer.?So it is called ‘a?genetic disease?’. According to this?concept,?human disease?can be divided?into the following three categories: 1．monogenic disorde: defects in?a?gene?locus 2．polygenic?disease: the interaction of more than one?gene ?and environmental factors. 3．Acquired genetic disease：caused by pathogens ?infection,?does not?conform to the law of Mendel? 一、the types of abnormal genes and genome is varied Generally, Abnormal structure: somatic cell/generative cell, nuclear genome/mitochondrial genome, coding sequence/ non-coding sequence. genetic marker: SNP, CNV Abnormal expression: usually based on the abnormal structure such as the mutation of promoter (一) many genes are involved in the abnormal number and structure of chromosome Polyploid Aneuploidy Chromosome breakage Results: Serious?disorder?of multisystem; Lethal, termination of pregnancy (二) Single?nucleotide or segment mutation 1. Single nucleotide mutation point mutation: A/G, C/T transition, A/C, G/T transversion single nucleotide polymorphism: SNP Effect on the gene function: mis-sense mutation; same-sense mutation; non sense mutation missense mutation： Base pairs varied in DNA codon is changed in mRNA amino acid is changed in protein protein is inactive. If occur in non essential region of protein neutral mutation G A A C T T G A A Glutamate G T A C A T G U A Valine Missense mutation results of base repair replaced A T DNA mRNA Amino acid