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Human Genome Forensic Biology Overview

Explore the structure and properties of human genome components, chromosomes, DNA polymorphisms, and genetic mapping in forensic biology. Learn about DNA polymorphisms and the Human Genome Project.

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Human Genome Forensic Biology Overview

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  1. Chapter 11: An Introduction to Human Genome Forensic Biologyby Richard Li

  2. 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

  3. 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

  4. Structure & Properties • Denaturation • Melting curve • Melting Temperature • Renaturation (reannealing) • Euchromatin • Heterochromatin Forensic Biology by Richard Li

  5. 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

  6. 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

  7. 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

  8. 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

  9. Human DNA Polymorphisms • Differences between individual genomes • Sequence polymorphism • Length polymorphism • DNA markers • Genetic mapping • Forensic DNA profiling Forensic Biology by Richard Li

  10. 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

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