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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