胆囊结石病家系9号染色体基因定位研究  

Position of cholelithiasis-associated genes on chromosome 9 in Chinese families

作　　者：秦俭[1] 韩天权[1] 袁文涛 费健[1] 姜志宏[1] 乙芳[3] 张静 蒋兆彦[1] 王艺 袁作彪[1] 黄薇 张圣道[1] 

机构地区：[1]上海第二医科大学附属瑞金医院外科,上海消化外科研究所,上海市200025 [2]国家人类基因组南方研究中心,201203 [3]上海第二医科大学附属瑞金医院B超室,200025

出　　处：《中华肝胆外科杂志》2004年第11期729-731,共3页Chinese Journal of Hepatobiliary Surgery

基　　金：国家人类基因组南方研究中心基金(CNCS99M06);国家重点基础研究发展规划项目(G1998051019);国家高技术发展(八六三)科技攻关计划(2002BA711A10);国家自然科学基金(30271272)资助

摘　　要：目的研究胆囊结石病基因在9号染色体的位置。方法用微卫星位点为遗传标记对12个胆囊结石病家系进行基因组扫描,用非参数分析软件GENEHUNTER和参数分析软件BATCHLINK进行连锁分析,寻找9号染色体上与胆囊结石病连锁的位点及区域。结果D9S1682的LOD值207,NPL值192,P=004。进行分层分析发现,血液甘油三酯升高组D9S1682的LOD值由207上升到240。结论9号染色体上存在胆囊结石病基因位点,该位点可能和伴高甘油三酯血症胆囊结石病有关。Objective To study the cholelithiasis-associated genes on chromosome 9 in Chinese population. Methods The microsatellite markers were used for wide genome scanning in 12 families with cholelithiasis. Genehunter and Batchlink of the Linkage Package were used for parameter and non-parameter linkage analysis to search the linkage position and are on chromosome 9. Results D9S1682 on chromosome 9 showed suggestive evidence for linkage with NPL score 1.92, P value 0.04 and LOD score 2.07. A rise of LOD score of D9S1682 from 2.07 to 2.40 was found when further analysis was performed. Conclusions Some genes on chromosome 9 might be associated with cholelithiasis in Chinese population. They may also attribute to cholelithiasis accompanied by higher triglyceride concentration in serum in Chinese families.

关 键 词：胆囊结石病 家系疾病 9号染色体 基因定位 高甘油三酯血症 

分 类 号：R575.6[医药卫生—消化系统]