作者: Narelle Maugeri , Jayachandran Radhakrishnan , Julian C. Knight
DOI: 10.1093/HMG/DDQ418
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摘要: The regulation of heat shock protein expression is significant physiological and pathophysiological significance. Here we show that genetic diversity an important determinant 70 involving local, likely cis-acting, polymorphisms. We define DNA sequence variation for the highly homologous HSPA1A HSPA1B genes in major histocompatibility complex on chromosome 6p21 establish quantitative specific assays determining transcript abundance. lymphoblastoid cell lines established from individuals African ancestry following shock, associated with rs400547 (P 3.88 × 10(-8)) linked single nucleotide polymorphisms (SNPs) located 62-93 kb telomeric to HSPA1B. This association was found explain 31 29% variance or resting cells, respectively. SNPs marked minor allele frequency among populations, being more common ancestry, are a region showing population-specific haplotypic block structure. work illustrates how analysis heritable induced phenotype can be informative defining functionally variation.