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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