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目的通过增加微卫星位点密度、扩大样本量,对以前定位到1号染色体上的中国北方汉族人群2型糖尿病相关易感基因研究结果进行验证。方法运用基因组扫描的方法,经多重PCR、电泳、GeneScan及Genotyper程序分析获取位点信息,最后经参数及非参数连锁分析,得到相关的P值、NPL值(Z值)。结果共扫描了5个区域34个位点,检出约12000个基因型。经GENEHUNTER2.0软件分析,其中的8个位点可能与糖尿病相连锁(P<0.05,NPL值最大为2.17),它们分布于3个区域,尤其是第1个区域(1p36.3-1p36.23),其每一个位点都显示与糖尿病相连锁,前后分布于1个长达16.9cM的范围内。另外2个区域未检出阳性结果。结论证实了全基因组扫描所获得的结果。尤其是,在所研究的1P末端区域,所有研究位点都显示与疾病连锁,这些位点分布在一个很宽的范围内,提示该区域可能蛰伏着多个糖尿病易感基因。
Objective To verify the results of the studies on type 2 diabetes-related susceptibility genes in Chinese Han population of northern China, which were previously located on chromosome 1, by increasing the density of microsatellite loci and expanding the sample size. Methods Genomic scanning was used to obtain site information by multiplex PCR, electrophoresis, GeneScan and Genotyper programs. Finally, the related P value and NPL value (Z value) were obtained by parametric and nonparametric linkage analysis. Results A total of 34 sites in 5 regions were scanned and about 12,000 genotypes were detected. According to GENEHUNTER2.0 software, 8 of these loci could be linked to diabetes (P <0.05, maximum NPL value of 2.17). They are distributed in three regions, especially in the first region (1p36.3-1p36. 23), each of which is shown to be linked to diabetes and distributed in a range up to 16.9 cM. The other two regions did not detect positive results. Conclusion confirmed the results obtained by genome-wide scan. In particular, in the 1P-terminal region under study, all the research sites were linked to the disease, and the sites were located in a wide range, suggesting that the area may be dormant with multiple susceptibility genes for diabetes.