Biology 1202B Lecture Notes - Lecture 18: International Hapmap Project, Retrovirus, Haplotype

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Biology 1202b: lecture 18 human genomics and genetic disease i. Genomics the study of genes and their functions, and related techniques . Cell is arrested at metaphase: chromosomes most compact, stained with dye to produce banding pattern. Can identify all individual chromosomes: 22 pairs of autosomes, 2 sex chromosomes. Each pair consists of one maternal and one paternal chromosome. Dye stains in a consistent fashion: pattern compared to standard. Abnormal chromosome number: more or less than 2 of each chromosome, e. g. trisomy 21. Approximate size of the genome 3 million base pairs known. The sequence of a number of genes and genomic regions known. Human genome project goal sequence and characterize the human genome. Early stage goals: refine sequencing techniques on smaller model organism genomes, mapping of genes by recombination frequency. Kaden vanhelden: draft version of human genome sequence published (2001, e. coli genome sequenced (1997, fruit fly genome sequenced (2000, finished version of human genome sequence completed (2003)

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