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Bio 101 Human genetics

Bio 101 Human genetics - Method analysis of family...

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Method: analysis of family inheritance patterns using pedigree A pedigree is a family tree that shows inheritance patterns within a family over generations Pedigree analysis: single-locus inheritance: -autosomal dominant, -autosomal recessive -x-linked recessive -example: albinism (autosomal recessive allele) Method: DNA sequencing and mapping of genes by genome projects Human genome project 1990-2003. Project goals Identify all the approximately 20000-25000 genes in human DNA, Determine the sequences of the 3 billion chemical base pairs that make up human DNA, Store this information in databases, improve tools for data analysis, Transfer related technologies to the private sector, and address the ethical, legal, and social issues (ELSI) that may arise from the project. Only about 2% of the genome code for proteins Repeated sequences that do not code for proteins make up to 50% of the genome Most of the human genome consists of noncoding regulatory elements, multiple copies of DNA, The functions are unknown for over 50% of discovered genes. Chromosome abnormalities Polyploidy: presence of multiple sets of chromosomes Common in plants, lethal in humans
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