山东半岛地区双相情感障碍20号染色体基因扫描研究

Localization of genetic susceptibility loci for bipolar disorder on chromosome 20 in Shandong peninsular

目的通过基因组扫描研究,在山东半岛地区人群20号染色体上发现与双相情感障碍关联的易感基因位点。方法采集104例双相情感障碍患者与1000名正常对照者的外周血液标本,分别建立患者组与对照组的两个DNA混合池样本;采用覆盖整个20号染色体并且间隔大约10 c M的13个微卫星标记,应用Gene Mapper 4.0分别对两个样本进行基因组扫描分析;使用CLUMP软件对两组等位基因频率进行比较。结果患者组与对照组在20号染色体上20p12.2(D20S186)区域的等位基因相对数目有统计学差异(P=0.022)。结论山东半岛地区人群位于20号染色体上的20p12.2与双相情感障碍易感性存在关联,下一步将对该区域进行精细定位,并探索可能存在的易感基因。

Objective To identify the genetic loci associated with bipolar disorder in Chinese population by the ge？nome scan on chromosome 20 in bipolar disorder patients and healthy people from Shandong peninsula. Method Geno？typing was conducted on DNA pool samples of 104 bipolar disorder patients and 1000 controls using thirteen microsatel？lite markers on chromosome 20 spaced at intervals of approximately 10 cM and GeneMapper 4.0 software. CLUMP soft？ware was used to analyze multiallelic markers. Result Significant difference of allele frequencies was found at marker D20S186 （20p12.2） between patients and controls （P=0.022）. Conclusion The data suggest that the D20S186 locus （20p12.2） is significantly associated with susceptibility to bipolar disorder in a Chinese Han population in Shandong pen？insula. Future studies should focus on the fine mapping of this region and assessment of candidate genes.