Fine mapping of susceptibility genes loci within chromosome 1 in Chinese Han families with type 2 diabetes / 中国医学科学院学报

ABSTRACT

<p><b>OBJECTIVES</b>To confirm previous whole-genome scan results of mapping type 2 diabetes susceptibility genes in chromosome 1 in Northern Chinese Han population by conducting a new genome scan with both an enlarged number of type 2 diabetes families and a new set of microsatellite markers.</p><p><b>METHODS</b>A genome scan method was applied. After multiplexed PCR, electrophoreses, genescan and genotyping analysis, size informations for all loci were obtained, and a further study was done using both parametric and non-parametric linkage analysis to calculate the P-values and Z-values of these loci.</p><p><b>RESULTS</b>A total of 34 microsatellite markers distributed within 5 regions along chromosome 1 were surveyed, and 12,000 genotypes were screened. Evidence of linkage with diabetes was identified for 8 of the 34 loci (all the P-values of the 8 loci distributed in 3 regions were lower than 0.05, and the highest Z-value was 2.17). Interestingly, all the 5 markers at the P terminal 1p36.3-1p36.23 region, spanning a long range of 16.9 cM, suggested to be linked with the disease. The results of the other two regions were not consistent with the previous ones.</p><p><b>CONCLUSIONS</b>The study results have confirmed those gained in the previous genome-wide scan. The fact that all 5 loci at the P terminal region displayed linkage with diabetes suggests that more than 1 susceptibility gene may reside in this region.</p>