高血压相关基因HSG上游调控序列单核苷酸多态性的发现及其与高血压的关联

Discovery of Single Nucleotide Polymorphism in HSG Gene in Hypertensive Patients and its Relationship with Hypertension

通过研究不同人群中新发现的高血压相关基因HSG基因多态性 ,以揭示高血压相关基因多态性与高血压的关系。选取 74例正常对照 ,其中男性 3 8例 ,女性 3 6例 ,平均年龄 (5 4.1 5± 7.77)岁 ;原发性高血压患者 5 1人 ,其中男性 2 7人 ,女性 2 4人 ,平均年龄 (5 7.2 5± 7.97)岁 ;高血压家族患者 2 0例 ,其中女性 1 1人 ,男性 9人 ,平均 (4 9.97±6.93 )岁。取外周静脉血并提取DNA ,进行PCR扩增法获得相应的产物 ,应用DNA测序法直接得到PCR产物的核苷酸序列后比较不同人群的该片段的碱基组成及其特征。结果 :肌酐 (Cr)和尿素氮 (BUN)在高血压组明显高于正常血压组 ,而高血压组和高血压家族组的收缩压和舒张压均明显高于正常血压组 (P <0 .0 1 ,P <0 .0 5 ) ;高血压组的血浆血管紧张素Ⅱ (AngⅡ )、内皮素 (ET)、利钠多肽 (心钠素 ,ANP)及降钙素基因相关肽 (CGRP)质量浓度均高于正常血压组 ,且两者之间存在着明显的差异 (P <0 .0 1 ) ;HSG基因 1 2位内含子的 1 40位点在 3种人群中存在G点删除变异。且其基因频率在高血压家族组、高血压组、正常人之间存在着明显的差别 (0 .80、0 .41、0 ,P <0 .0 0 1 )。提示 :肾功能的指标 (Cr和BUN)可能可以较早地反映高血压的进展和靶器官损害状况。血浆AngⅡ、ET。

WT5HZ][WT5BZ][ST5BZ]The aim was to investigate the single nucleotide polymorphism(SNP) of the novel hyperplasia suppressor gene (HSG) and uncover the relationship of HSG SNP and hypertension. Altogether 74 normaltensive people (male 38, female 36), 51 essential hypertensive patients(male 27, female 24),which came from the outward patients of Anzhen hospital, and 20 patients of hypertension with family history (male 9, female 11) were chosen. Respectively, the average age was 54.15±7.77, 57.25±7.97 and 49.97±6.93. Patients vein blood was drawn and DNA was extracted, then the right primers and PCR were designed. The sequences of each PCR-product were sequenced by ABI PRISM 377-DNA sequencer. Cr and BUN were high in hypertensive patients than in normaltensive patients ( P<0.01).The level of AngⅡ, ET were higher significantly in normaltensive(P<0.01, P<0.01) while ANP and CGRP were lower in hypertensive patients than in moraltensive patients(P<0.05, P<0.01), though no obvious differences existed in hypertensive patients with family history and the normal control group. Systolic pressure was closely related to age (R=0.387;P<0.001). Diastolic pressure was positively related to AngⅡ,Cr,BUN(R=0.328,0.289,0.165;P<0.001),though was negatively related to HDLC(R= -0.149,P<0.01) There was obvious difference in the 140 nucleotide of the 12th intron nucleotide of HSG in normaltensive, hypertensive patients and patients with family history (0.80,0.41,0;P< 0.001). Probably, Cr and BUN were a sign of hypertension and its complication. Some vasoactive factors may be important in the origin and development of primary hypertension. There was a G-deletion SNP of 12th intron nucleotide of HSG in Chinese, and perhaps the SNP was an independent risk factor for hypertension.