SA基因与中国汉族人群高血压病的关系

The association between SA gene and essential hypertension in Han Chinese

目的 探讨 SA基因座是否与中国汉族人群高血压病连锁 ,以及 SA基因多态性与中国汉族人群高血压病的关系。方法 应用 MF- PCR- SSCP技术研究 SA基因座微卫星的频率分布特征 ;以 SA基因座微卫星为遗传标记 ,通过状态一致性受累同胞对连锁分析方法探讨 SA基因座是否与高血压病连锁 ;运用 PCR- SSCP-银染技术筛查 SA基因变异体 ,再经测序证实 ,然后通过关联研究明确这种变异是否与高血压病有关。结果 (1) D16 S30 46、D16 S3136和 D16 S30 6 8多态信息量 (PIC)分别为 0 .86、0 .82和 0 .80 ,杂合度 (H)分别为 0 .88、0 .71和 0 .77,表明中国汉族人群 SA基因座微卫星的频率分布具有高度多态性 ;(2 ) SA基因座与中国汉族人群高血压病无连锁关系 ,微卫星 D16 S30 46、D16 S3136和 D16 S30 6 8连锁分析 t值分别为 0 .972、0 .6 2 2和 0 .2 36 ,P值分别为 0 .384、0 .5 43和 0 .871;(3) SA基因座存在 C→ T置换 ,但各基因型和等位基因的频率分布在有高血压病家族史的高血压病患者和无高血压病家族史的血压正常人之间差异无显著性 ,前者χ2 =0 .382 ,P>0 .0 5 ,后者χ2 =0 .2 96 ,P>0 .0 5。结论 SA基因与中国汉族人群高血压病无关 。

Objective: To evaluate the linkage of SA gene locus to essential hypertension (EH) in affected Han Chinese sib pairs and to ascertain the association of SA gene CT79 polymorphism with essential hypertension in Han Chinese hypertensives. Methods: In Han Chinese at Shanghai, 96 random individuals, 80 essentially hypertensive sib pairs with hypertensive family history, 200 essential hypertensives with hypertensive family history and 200 normotensive control (NC) subjects without such family history were enrolled in these serial studies. MF-PCR-SSCP technique was applied to detect the frequency distributions of SA gene microsatellite D16S3046, D16S3136 and D16S3068. The linkage of SA gene locus to essential hypertension was analyzed by Green's IBS for affected siblings. SA gene variant was screened by PCR-SSCP-silver staining and confirmed by DNA sequencing, then an association study was performed to determine whether such variant was associated with essential hypertension. Results: The frequency distributions of SA gene microsatellites D16S3046, D16S3136 and D16S3068 were of high polymorphism. The polymorphism information contents of D16S3046, D16S3136 and D16S3068 were 0.86, 0.82 and 0.80, and the heterozygosities 0.88, 0.71 and 0.77. The linkage of SA gene locus to essential hypertension was not observed; the linkage analysis t values of D16S3046, D16S3136 and D16S3068 were 0.972, 0.622 and 0.236, and the P values 0.384, 0.543 and 0.871, respectively. The C&rarrT substitution was confirmed, but there was no association of such variant with essential hypertension. The frequency distributions of genotypes and alleles in the hypertensive group were not significantly different from those in the normotensive group (P>0.05). Conclusion: SA gene is not linked to or associated with essential hypertension in Han Chinese. SA gene may not be a susceptible gene contributing to the development of essential hypertension in Han Chinese.