13种参与血管调节基因位点与中国人高血压病的连锁分析

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目的 连锁分析肾素 血管紧张素系、内皮素系、一氧化氮合酶、肾上腺素受体等 13种参与血管调节基因位点与中国人高血压病关系。方法 在 13种参与血管调节的候选基因附近 ,各选1个短串联重复序列 (STR)作为遗传标记 ,应用荧光标记引物 基因扫描及分型技术 ,对 95个汉族高血压病家系 4 77个成员进行STR多态性位点与高血压病连锁分析。统计用GENEHUNTER软件包进行最大优势对数记分 (Lod)法、两点非参数连锁 (NPL)分析及传递不平衡检验 (TDT)。结果 用TDT法发现D1S16 78、D3S174 4、D4S16 0 4、D13S80 0、D7S4 83、D8S2 5 5等 6个位点 0 0 1

0 0 5 ,最大Lod值 <- 1。结论 TDT分析是很敏感的检验方法 ,有 6个位点存在传递不平衡 ,对这些位点附近的基因与高血压病的关系值得关注 ,但用该法似获更小P值才能减少假阳性。用 3种统计方法均未发现其余位点与高血压病连锁。 Objective To analyze the relationship between renin-angiotensin system, endothelin system, nitric oxide synthase and adrenergic receptors in hypertension-related diseases in Chinese. Methods Nearly 13 candidate genes involved in vascular regulation were selected and 1 short tandem repeat (STR) was selected as the genetic marker. Fluorescently labeled primers were used to screen and categorize 4 77 members of 95 hypertensive Han families A linkage analysis of STR polymorphisms and hypertension was performed. Statistics The GENEHUNTER software package was used for the most significant Lod method, two non-parametric linkage (NPL) analysis and transmission imbalance test (TDT). Results The TDT method showed that there were 6 loci such as D1S16 78, D3S174 4, D4S16 0 4, D13S80 0, D7S4 83, D8S2 5 5, 0 0 1

0 0 5, the maximum Lod value <- 1. Conclusions TDT analysis is a very sensitive test. There are six loci imbalanced. The relationship between these loci and hypertension is noteworthy. However, using this method to reduce the number of false positives . With the three kinds of statistical methods were found no other sites linked to hypertension.

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