山东省双相情感障碍患者4号染色体基因扫描的初步研究  

A screen for genetic loci associated with bipolar disorder on chromosome 4

作　　者：栾萌[1] 唐剑[2] 周鹏[1] 常学润[3] 王元训[3] 杨树林[1] 陈星[1] 刘文敏[1] 范文田[3] 陈刚[1] 

机构地区：[1]山东省医学科学院基础医学研究所医学遗传学研究室,济南250062 [2]山东大学校医院 [3]山东省精神卫生中心

出　　处：《中华行为医学与脑科学杂志》2010年第11期961-963,共3页Chinese Journal of Behavioral Medicine and Brain Science

基　　金：基金项目：山东省自然科学基金重点项目（Z2008C11）,山东省医学科学院项目（2009-15）

摘　　要：目的 通过微卫星遗传标记对双相情感障碍患者及正常对照者的4号染色体进行扫描,查找与双相情感障碍关联的遗传位点,进而定位易感基因.方法 在4号染色体上间隔10cM（厘摩）遗传距离选择了22个微卫星遗传标记,对104例发病年龄≤20岁的双相情感障碍患者与1000例正常对照者组成的DNA混合样本分别进行了基因扫描及分型.采用CLUMP软件进行统计学分析,逐一比较患者组与对照组每个等位基因频率的差异.结果 在4号染色体D4S1592和D4S402两个位点发现患者组与对照组的等位基因频率差异有统计学意义（其中在D451592位点共得到7个等位基因片段,患者组的等位基因频率分别为0.062,0.097,0.151,0.266,0.196,0.189,0.039,对照组的等位基因频率分别为0.063,0.182,0.172,0.283,0.166,0.124,0.010,x2=15.968,P=0.006;在D4S402位点共得到13个等位基因片段,患者组的等位基因频率分别为0.015,0.023,0.033,0.046,0.096,0.162,0.149,0.165,0.137,0.069,0.036,0.041,0.030,对照组的等位基因频率分别为0.023,0.032,0.051,0.093,0.151,0.179,0.158,0.130,0.078,0.048,0.029,0.017,0.010,x^2=31.553,P=0.002）.结论 山东省双相情感障碍患者与4号染色体上D4S1592和D4S402相关联,易感基因可能位于其附近.Objective To find out association mapping of loci related to bipolar disorder on chromosome 4 with microsatellite markers in DNA pooling samples from bipolar disorder cases and normal controls in Shandong province. Methods A total of 22 microsatellite markers on chromosome 4 spaced at approximately 10 cM were selected and two separated DNA pooling samples consisting of 104 bipolar disorder cases and 1000 normal controls were genotyped respectively. Statistic analysis was performed by Chi-square method with CLUMP software to compare the difference in the ratio of each allele in these loci between the two pooling samples. Result Significant statistic differences were found at D4S1592 and D4S402 on chromosome 4 between cases and controls（P〈0.01 ）.（ D4S1592：x2 = 15.968, P=0.006 D4S402：x2 =31.553, P=0.002）. Conclusion The loci of D4S1592 and D4S402 on chromosome 4 are found to be associated with bipolar disorder patients in Shandong province, further screening of the susceptibility genes around these loci is needed.

关 键 词：双相情感障碍 染色体 遗传 基因 DNA 混合池 

分 类 号：R749.4[医药卫生—神经病学与精神病学]