安徽医科大学：《医学遗传学》课程教学资源（课件讲稿，打印版）02-The Human Genome and the Chromosomal Basis of Heredity

Medical Genetics Chapter 2 The Human Genome and the Chromosomal Basis of Heredity This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Outline ◆Some concepts; The Human Genome and its Chromosomes; DNA structure:a brief review, Organization of human chromosomes, The mitochondrial chromosome, Organization of human genome; ◆Cell Division. This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics 1.Some concepts 1.1 Genome:the sum total of the genetic information of our species. Nucleer chromosomes Every nucleated cell in Mitochondrial the body carries its owr copy of the human genome,which contains by current estimates, about 25,000 genes. AAACTGTGAAGGCTTATAAT.. Human Genome Sequence Elsevier.Nussbaum et al:Thompson and Thompson's Genetics in Medicine 7e-www.studentconsult.com This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics ● 1.2 karyotype:The characteristic chromosome complement in terms of the number and the morphology of the chromosomes that make up its genome. ●1.3 locus and gene map The locus is the precise position of each gene. A gene map is the map of the chromosomal location of the genes. 1.4 cytogenetics:The study of chromosomes, their structure,and their inheritance.The science of modern human cytogenetics dates from 1956,when it was first established that the normal human chromosome number is 46. This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics 2.The Human Genome and its Chromosomes The human chromosomes: autosomes:22 pairs sex chromosomes:X chromosome and Y chromosome Homologous chromosomes ●alleles This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics 2.1 Organization of Human Chromosomes Each human chromosome consists of a single,continuous DNA double helix. The genome is packaged as chromatin,in which genomic DNA is complexed with several classes of chromosomal proteins. Each complex of DNA with core histones is called a nucleosome,which is the basic structural unit of chromatin. This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Hierarchical levels of chromatin packaging in a human chromosome 2 nm -10nm -30nm Histone Portion of an octamer interphase chromosome 140bp of DNA Each loop contains' -100.000 bp of DNA Double helix Nucleosome fiber Solenoid Interphase ("beads on a string") nucleus Elsevier.Nussbaum et al:Thompson and Thompson's Genetics in Medicine 7e-www.studentconsult.com This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics 2.2 The Mitochondrial Chromosome Mitochondrial genes exhibit exclusively maternal inheritance. Human cells can have hundreds to thousands of mitochondria,each containing a number of copies of a small circular molecule,the mitochondrial chromosome. The mitochondrial DNA molecule is only 16kb in length,and encodes only 37 genes. This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics 2.3 Organization of the Human Genome Single-copy DNA/Unique DNA; ●Repetitive DNA: Alu family:about 300 base pairs in length.In total, there are more than a million Alu family members in the genome,making up at least 10%of human DNA. LINEs:up to 6 kb in length and are found in about 850,000 copies per genome,accounting for about 20%of the genome. This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics 250 Size and gene content of the 200 24 human chromosomes 150 50 2 4 91011121314151617181920Y2221 25001 2000 1500 1000 500 12:19111736712518X9104814152022131821￥ Elsevier.Nussbaum et al:Thompson and Thompson's Genetics in Medicine 7e-www.studentconsult.com This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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