安徽医科大学：《医学遗传学》课程教学资源（课件讲稿，打印版）09 Genetic Variation in Individuals and Population

Medical Genetics Chapter 9 Genetic Variation in Individuals and Populations:Mutation and Polymorphism 1 This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Outline ◆Mutation; Types of mutation and their consequences; Human genetic diversity; Inherited variation and polymorphism in DNA; Inherited variation and polymorphism in proteins; Genotypes and phenotypes in populations; Factors that disturb Hardy-Weinberg Equilibrium. 2 This document is produced by trial version of Print2Flash.Visit www.printflash.com for more information

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Medical Genetics 1.Mutation Categories of human mutation: o Genome mutation:mutations that affect the number of chromosomes in the cell; o Chromosome mutation:mutations that alter individual chromosomes; ● Gene mutation:mutations that alter individual genes. 3 This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Genome mutation Genome mutations are alterations in the number of intact chromosomes(called aneuploidy)arising from errors in chromosome segregation during meiosis or mitosis. Origin:missegregation of a chromosome pair during meiosis. Consequence:chromosomal aneuploidy. The most common mutations seen in humans; also common in cancer cells. This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Chromosome mutation Chromosome mutations are changes involving only a part of a chromosome,such as partial duplications or triplications,deletions,inversions, and translocations,which can occur spontaneously or may result from abnormal segregation of translocated chromosomes during meiosis. Approximately one rearrangement per 1700 cell divisions;also frequently seen in cancer cells. This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Gene mutation A gene mutation is a change in the nucleotide sequence that composes a gene.This is a change or variation from the most common or wildtype sequence. Somatic mutations L Germline mutations 6 This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Somatic vs.germline mutations Somatic tissue Normal progeny Germinal tissue Mutant sector Mutant Normal sector Mutant progeny progeny Mutations can occur in either somatic or germline tissue,but only germline mutations can be passed on to the offspring. 7 This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Causes of gene mutation Spontaneous mutation:due to naturally- occurring errors in DNA replication. Induced mutation:due to exposures to radiation or chemical mutagens. 8 This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Examples of gene mutation:DNA Replication Errors Normal C A TT C AC C TG T A CC A G T A A G T GG A C A T GG T Substitution C A TG C A CC TG T A CC A G T AC G TG G A C A T:GG T Deletion C A TC A CC T GT A CC A G G T AG T GG A CA T GG T C 人 Insertion C A TG T C:A C CT G T A CC G T AC A GT G GA C A T GG Elsevier.Nussbaum et al:Thompson and Thompson's Genetics in Medicine 7e-www.studentconsult.com 9 This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Major types of gene mutation Point mutations: Rearrangements: silent mutation -frameshift mutation -missense codon deletion mutation large deletion and -nonsense insertion mutation -deletions and -splicing mutation duplications trinucleotide expansion This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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