糖及脂代谢调节基因与高血压病的连锁分析  

Linkage analysis of candidate genes for glucose and lipid metabolism with 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]美国得克萨斯大学休斯顿分校人类遗传学中心

出　　处：《中华医学杂志》2001年第1期20-22,共3页National Medical Journal of China

基　　金：国家 8 6 3高技术研究发展计划资助项目! (10 2 10 0 2 0 3;Z19 0 1 0 3 0 1A ) ;国家重点基础发展 973规划资助项目!(G19980

摘　　要：目的　观察糖、脂代谢调节基因的微卫星位点与高血压病间是否连锁 ,以识别高血压易感基因位点。方法　以 18个糖、脂代谢调节基因附近的微卫星为标记 ,采用微卫星荧光标记 基因扫描及分型技术 ,对 95个EH家系 477名成员进行标记位点与EH表型连锁分析。统计采用GENEHUNTER软件包两点非参数连锁 (NPL)分析、计算优势对数记分 (Lod)值及传递不平衡检验(TDT)。结果　NPL分析及Lod值均不支持所测微卫星位点与高血压病连锁 ,但TDT则提示D8S2 6 1、D11S1347位点与高血压病间存在连锁不平衡 (P <0 .0 1)。两位点附近分别有脂蛋白脂酶 (LPL)基因和 (apoA1 C3 A4)基因簇。结论　TDT提示D8S2 6 1、D11S1347两位点与高血压病间存在连锁 ,其位点附近基因 (LPL基因及载脂蛋白基因簇 )Objective To identify the genetic loci responsible for susceptibility to essential hypertension (EH) in chromosomal regions containing candidate genes involved in the regulation of glucose and lipid metabolism. Methods Linkage analysis of EH were performed in 95 Chinese nuclear families with 477 subjects using the technique of fluorescence based gene scan with microsatellite markers. Markers were selected in 11 chromosomal regions containing 18 candidate genes regulating blood glucose and lipid metabolism. The two locus, non parametric linkage analysis (NPL), maximum LOD score and transmission/disequilibrium test (TDT) with GENEHUNTER program were used in this study. Results No significant linkages were found by NPL and LOD score analysis ( P >0.05 or LOD score <1) at all loci. The results of TDT showed significant linkage with EH at D8S261 and D11S1347 (χ 2 =11.92, P <0.001 and χ 2 =7.37, P <0.01, respectively). Near these loci, there were a few candidate genes including lipoprotein lipase (LPL) and a cluster of apolipoprotein (apoA1 C3 A4). Conclusion TDT suggests significant linkage with EH at D8S261 and D11S1347. Whether the genes located at or near the two loci, such as LPL and apoA1 C3 A4, are susceptibility genes of EH need to be verified.

关 键 词：高血压 易感基因 血糖 血脂 基因调节 

分 类 号：R544.1[医药卫生—心血管疾病]