安徽医科大学：《医学遗传学》课程教学资源（课件讲稿，打印版）07-patterns of single-gene inheritance

Medical Genetics Chapter 7 Patterns of single-gene inheritance This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Outline Overview and concepts; ◆ Mendelian inheritance of single-gene disorders; Transmission patterns of Mendelian inheritance: Autosomal dominant inheritance, Autosomal recessive inheritance, X-linked dominant inheritance, X-linked recessive inheritance, Y-linked inheritance. This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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1.Overview and concepts Single-gene disorders:genetic disorders caused by a single mutant gene. Locus:a segment of DNA occupying a particular position or location on a chromosome. Alleles:Alternative variants of a gene. wild type allele/common allele; mutant allele/variant allele. Mutation:indicate a new genetic change or merely a disease-causing mutant allele. This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Overview and concepts Homozygote/homozygous:the genotype or the person who has a pair of identical alleles at a locus encoded in nuclear DNA. Heterozygote/heterozygous:the genotype or the person who has a pair of different alleles of the same gene. Compound heterozygote:...with two different mutant alleles of the same gene. Hemizygote/hemizygous:the male who has an abnormal allele on the X chromosome. This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Overview and concepts Pedigree:graphic representations of a family tree which show the biological relationship of the index case,or proband or propositus to the rest of the individuals. A family tree diagram that shows how a particular genetic trait or disease has been inherited. This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Overview and concepts Proband:an affected individual through whom the family came to the attention of the investigator,also called propositus,index case. Pedigree chart(family tree): Pedigree chart is a shorthand diagram,which show at a glance the relationship of affected relatives to the propositus and to one another. This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Overview and concepts Taking a family history: 1 age,sex,parents,sibs and other near relatives. 2 miscarriage and stillbirth? 3 consanguineous marriage? 4Parents from the same geographic area or ethnic isolate? 5 Diagnosis of the similar condition in any relative of the patient. 6Exact relationship of the relatives to the proband and to one another. ⑦ Negative information may be important as a positive finding. This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Symbols commonly used in pedigree charts 口 Male ☐-○Marrage on O Female ☐0 Divorced ◇ Sex unspecified 0-0 Consanguinity ☒② Number of children of sex indicated Monozygotic twins ▣O Affected 60 Dizygotic twins 四① Nonpenetrant carrier, may manifest disease Twins of unknown ▣O Obligate carrier,will not manifest disease Pedigree with Proband generations and individuals numbered ☑ Deceased individual 必 Stillbirth Miscarriage Adopted into family 0 No offspring Adopted out of family Multiple unions Arrow indicates consultand seeking ⊙ Pregnancy with information on counseling LMP 24 wk dates if available 122005 Spontaneous Termination abortion of pregnancy This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Pedigree ☑T0 Key ☐male■atlected male ☑deceased male Otemale atlected female deceased lemale This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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2.Mendelian inheritance of single-gene disorders Dominant phenotype or recessive phenotype; The chromosome location of the gene locus: on autosome or on sex chromosome. Dominant Recessive Autosomal Autosomal Autosomal dominant recessive X-linked X-linked X-linked dominant recessive This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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