09 genomics

09 genomics - What do these individuals have in common?...

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What do these individuals have in common?
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Genes undergoing positive selection in humans include proteins that are involved in hearing Major deletions in the chimp genome (totaling 8 Mbp), include genes associated with immunity and inflammation A dominant force shaping primate genomes has been the proliferation of mobile genetic elements of various kinds The draft sequence of the chimpanzee genome is providing molecular data that may shed new light on human origins The level of single-base pair substitutions between the two species is only 1.44% Sequencing the chimp genome
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Genomics Genomics is the molecular mapping and characterization of whole genomes and whole sets of gene products. 1. Molecular mapping made possible by advances in technology automated cloning and sequencing (robotics) allowing high throughput computerized tracking and analysis of sequences Whole genome mapping takes place in several steps 1. Linkage maps and molecular markers (a rough map) 2. Chromosome maps (where are genes on the chromosome?) 3. Physical maps (line up all the clones before sequencing) 4. Sequencing of the all of the clones that make up the genome is the last step 2. Functional genomics is study of how all the genes and proteins work (determine the actual function of genetic material)
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Genome projects The initial genome projects were chosen for their small size (first viruses and then bacteria) Haemophilus influenza in 1995 Recently, a number of eukaryotic organisms have been sequenced Many of the organisms were chosen for their importance in human disease or as characterized models for development and genetics http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=genomeprj http://genome-www5.stanford.edu/cgi-bin/source/sourceResult The human sequence will accelerate progress in understanding which genes are involved in specific human diseases
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Where do you start? Start with low-resolution maps from existing recombination maps (easy for some species, not for humans) Next, layer DNA polymorphisms onto map neutral DNA sequence variation is not usually associated with phenotypic variation Many more DNA polymorphisms than genes such DNA markers behave as allelic gene pairs and can be detected by Southern blotting or PCR One example is the restriction fragment length polymorphism (RFLP) This is a DNA sequence difference between individuals that is recognized as different restriction fragment lengths. A probe for this region will hybridize to different sized fragments within restriction digests of DNA from the two alleles.
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What is a RFLP? Restriction fragment length polymorphism May be associated with a specific disease (cystic fibrosis) Detected by Southern blotting or PCR Restriction digestion of PCR products yields one fragment for allele A and two fragments for a Note that homozygotes and heterozygote have different restriction patterns, permitting identification of carrier
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09 genomics - What do these individuals have in common?...

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