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Human Biology
Stephen Wright

LECTURE 11: Feb.152011 Huntingtons disease once one generation doesnt have it, the disease is eliminated in the FAMILY Also genetics, ethical issues Need to find where it is, before they can do anything about it Look at molecular markers and their segregation Find patterns of inheritance, and move from genetics to molecular studies and biochemistry Took decades TO FIND THE GENE AND HOW IT WORKS TO FIND A CUREhow do you isolate The gene of interest using genetic tools Impetus to study genomes Human genome main funding incurred by medical implications Having genetics pave a road map makes the process faster Two different funding one public, one privately funded Two different approaches Collins hierarchical approaches sequence clones after having ordered them Venter whole genome dive right in Cannot read sequence of chromosome from start to finish *** o Cut copies of genome o Using overlapping areas to put the fragments together Cant get any further because many sequence of repetition o Not sure of true overlap Want to annotate the genome to figure out whats what o Use computational predictions as to where genes are o Use additional evidence ie. RNA evidence o Once have raw sequence, then predict locations of genes, compare genes in other species, to determine gene function o Link up phenotypic variation to the DNA level o What are the actual regions causing disease, and how can the disease be treated? With HD, had no idea of gene and where it was Use segregation of phenotype and molecular markers to help Do linkage mapping of molecular markers and relate it to phenotypes Ultimately, to localize the gene in the genome
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