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The history of high-density GWA scanning to date has demonstrated the striking success of this approach in finding genetic variants associated with disease. Variants or regions associated with nearly 40 complex diseases have been identified in diverse population samples.
Major Autism Gene Found with Help of HapMap Using data from the HapMap, along with DNA samples collected from many families who have affected children, researchers have discovered a genetic variation linked to autism, one of the most heritable mental health conditions. They found a variation in the sequence of a gene - the “MET receptor tyrosine kinase gene” - that is associated with autism. This gene is involved in brain development, immune function, and digestive system repair. The MET promoter variant rs1858830 allele "C" is strongly associated with ASD and results in reduced gene transcription. MET protein levels were significantly decreased in ASD cases compared with control subjects. People who have the variation are more than twice as likely as others to have “autism spectrum disorders” Campbell DB et al, Ann Neurol. 2007
Page 1 and 2: The International HapMap Project An
Page 3 and 4: Genetic and environmental contribut
Page 5 and 6: Discovering these genetic factors w
Page 7 and 8: Human Genetic Variations Primarily
Page 9 and 10: SNPs Sites in the genome where the
Page 11 and 12: Polymorphism A sequence variation t
Page 13 and 14: In principle, SNPs could be bi-, tr
Page 15 and 16: Non-coding SNPs Example: Regulatory
Page 17 and 18: Coding SNPs Example: Non-synonymous
Page 19 and 20: A particular combination of alleles
Page 21 and 22: Linkage disequilibrium Situation i
Page 23 and 24: Many empirical studies have shown h
Page 25: The International HapMap Project is
Page 28 and 29: The HapMap was designed to determin
Page 30 and 31: The International HapMap Consortium
Page 32 and 33: The project had become practical by
Page 34 and 35: The Phase I HapMap Phase I of the H
Page 36 and 37: To study patterns of genetic variat
Page 38 and 39: They estimate that genotypes relate
Page 40 and 41: Genotyping in phase II was attempte
Page 42 and 43: Variation in SNP density within the
Page 44 and 45: Studies in additional populations h
Page 46 and 47: APPLICATION OF THE HAPMAP TO COMMON
Page 50 and 51: A genome-wide association study ide
Page 52 and 53: Beyond SNPs: Copy Number Variants a
Page 54 and 55: Although not as common as SNPs, the
Page 56 and 57: In 2004, the interrogation of genom
Page 58 and 59: It is now recognized that the genom
Page 60: Bibliografia The International HapM

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