12个水盐代谢、离子转运候选基因与高血压病连锁分析  

Linkage analysis of 12 candidate gene loci regulating water, sodium metabolism and membrane ion transport in essential hypertension

作　　者：初少莉[1] 朱鼎良[1] 熊墨淼[2] 王谷亮[1] 金力[2] 

机构地区：[1]上海第二医科大学附属瑞金医院上海市高血压研究所,200025 [2]美国休斯顿德克萨斯大学人类遗传中心

出　　处：《中华心血管病杂志》2001年第4期194-197,共4页Chinese Journal of Cardiology

基　　金：国家高技术研究发展计划 ( 10 2 10 0 2 0 3;Z19 0 1 0 3 0 1A);国家重点基础发展规划 (G19980 5 10 13)

摘　　要：目的　研究 12个水盐代谢、离子转运调节基因与高血压病 (EH)的关系 ,以筛选EH易感基因。方法　在每一候选基因的染色体区域附近 ,选择微卫星DNA多态性位点作为遗传标记 ,采用微卫星引物荧光标记 基因扫描及分型技术 ,对 95个EH核心家系的 4 77个成员进行微卫星位点与EH连锁分析。遗传统计采用Genehunter软件包中两点非参数连锁 (NPL)分析、最大LOD值及传递不平衡检验 (TDT)。结果　NPL检验显示 ,D12S3 98的Z =2 .0 8,P <0 .0 5 ;LOD值 =1.2 6,P <0 .0 1;TDT分析 χ2 =9.0 0 ,P <0 .0 0 5。其余位点NPL分析及TDT的P值均 >0 .0 5 ,LOD值 <1。结论　采用三种不同的遗传统计方法提示D12S3 98位点与EH存在连锁 ,并且在D12S3 98附近有血管加压素 1A受体基因 ,该区域值得进一步研究。Objective To investigate the relationship between 12 candidate genes responsible for regulating water, sodium metabolism and membrane ion transport and essential hypertension (EH) in Chinese. Methods Linkage analysis was performed in 95 Chinese nuclear families including 477 subjects using a technique of fluorescence-based gene scan with microsatellite markers. Markers were selected on the chromosomal regions containing candidate genes responsible for regulation of water, sodium metabolism and ion transport. The two-point, non-parametric linkage analysis (NPL), maximum LOD score analysis and transmission /disequilibrium test(TDT)were used by Genehunter software package in this study. Results The NPL analysis and TDT indicated a positive linkage at D12S398 (z=2.08,P<0.05 and χ2=9.00, P<0.005,respectively). LOD score analysis supported significant linkage at D12S398 with a small P value (LOD score=1.26, P<0.01). No significant linkages were found at other loci(P>0.05). Conclusion D12S398, a marker near vasopress in receptor 1A gene (V1AR), shows positive linkage with EH by using three statistical methods (NPL, LOD Score, and TDT). This region deserves to be further explored.

关 键 词：高血压 离子转运 水盐代谢 连锁分析 

分 类 号：R544.1[医药卫生—心血管疾病]