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Chapter 11: An Introduction to Human Genome. Forensic Biology by Richard Li. Structure & Properties. A linear polynucleotide consisting of four types of monomeric nucleotides Each nucleotide contains: Deoxyribose, a Nitrogenous base, and a Phosphate group Four bases: Adenine (A)
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Chapter 11: An Introduction to Human Genome Forensic Biologyby Richard Li
Structure & Properties • A linear polynucleotide consisting of four types of monomeric nucleotides • Each nucleotide contains: • Deoxyribose, a Nitrogenous base, and a Phosphate group • Four bases: • Adenine (A) • Cytosine (C) • Guanine (G) • Thymine (T) Forensic Biology by Richard Li
Structure & Properties • The Double Helix • Watson & Crick • B-Form of DNA- right handed turns and two grooves that spiral (major & minor) • Stabilized by chemical interactions • A always pairs with T • C always pairs with G Forensic Biology by Richard Li
Structure & Properties • Denaturation • Melting curve • Melting Temperature • Renaturation (reannealing) • Euchromatin • Heterochromatin Forensic Biology by Richard Li
Structure & Properties • Human Chromosomes • Short arm (p) & Long arm (q) • Centromeres- DNA sequences found near the point of attachment of mitotic or meiotic spindle fibers • Telomeres- ends of chromosomes Forensic Biology by Richard Li
Human Chromosomes • Gametes- spermatozoa and ova • Haploid • 22 autosomes + 1 sex chromosome • Somatic Cells- most other cells except reproductive • Diploid • Two copies of each autosome + 2 sex chromosomes= 46 Forensic Biology by Richard Li
Human Nuclear Genome • Human genome- • one set of 23 chromosomes • Contains biological information to perform biological functions • Nuclear and Mitochondrial Genomes • 3.2 billion base pairs • 30,000 – 40,000 genes • Encode information for the synthesis of proteins • Human Genome Project (1990)- • 2.6 billion base pairs (80%) completed Forensic Biology by Richard Li
Human Nuclear Genome • Intergenic Non-coding Sequences • 60% of human genome sequence • Repetitive DNA • Genome-wide (interspersed repeats) • SINEs, LINEs, LTR • Tandemly repeated DNA • Repeat units that are placed next to each other in an array • Satellite DNA • Minisatellites • Microsatellites Forensic Biology by Richard Li
Human DNA Polymorphisms • Differences between individual genomes • Sequence polymorphism • Length polymorphism • DNA markers • Genetic mapping • Forensic DNA profiling Forensic Biology by Richard Li
Human DNA Polymorphisms • Majority are Single-nucleotide polymorphisms (SNP) • Alleles • Homozygous • Heterozygous • Genotype- combination of alleles at any given locus • DNA profile Forensic Biology by Richard Li