Wen Shao-jun, Wang Zuo-guang, Chen Guang-hui, Liu Ya, Liu Jie-lin, Luo Yi, Tang Jian
Division of Hypertension, Beijing Institute of Heart, Lung, Vascular Disease, Beijing 100029, China.
Zhonghua Yu Fang Yi Xue Za Zhi. 2005 Jan;39(1):15-8.
To investigate the single nucleotide polymorphism (SNP) of the novel hyperplasia suppressor gene (HSG) to uncover the relationship between HSG SNP and hypertension.
Totally, 74 normotensive people (38 men and 36 women), 51 patients with essential hypertension (27 men and 24 women) and 20 hypertensive patients with family history of essential hypertension (9 men and 11 women) were chosen, with mean ages of (54 +/- 8) years, (57 +/- 8) years and (38 +/- 22) years, respectively. Peripheral venous blood specimen was collected from each of them and then DNA was extracted. The right primers were designed for DNA amplification with PCR. Each of the PCR-products from different groups was sequenced by ABI PRISM 377-DNA sequencer and their base components and characteristics of the same fragment were compared each other.
Blood levels of creatinine (CRE) and urea nitrogen (BUN) were significantly higher in the hypertensives than in the normotensives (P < 0.01). Systolic and diastolic blood pressures were significantly higher in the hypertensives and the hypertensives with family history of essential hypertension than in the normotensives (P < 0.01 and P < 0.05). There existed three kinds of SNP in the HSG 12th intron (1q82139 G/A, 82153C/G and 82273G/-), and there was significant difference in 1q82153C/G and 82273G/- SNP between the hypertensives and normotensives (P < 0.05 and P < 0.01) and between the hypertensives with family history and the normotensives (P < 0.01 and P < 0.01). And, the similar difference in C/G allele and G deletion could be found in different populations. Moreover, the CC genetype of 1q82153 was common in the population (P < 0.01) and G deletion was more common in Chinese Han people with family history of essential hypertension. There was no significant difference existed in 1q82139 G/A mutation among the three groups.
Measurements of renal function indicators (CRE and BUN) could probably reflect earlier advance of hypertension and damage to target organs. There existed three kinds of mutation in the 12th intron of the HSG 1q82139 G/A, 82153 C/G and 82273 G/-. The 1q82139 G/A could be a nonsense mutation and there was significant difference in the 1q82153 C/G and 1q82273 G/- SNP and gene frequencies between different Chinese Han populations, which could be independent risk factors for essential hypertension.
研究新型增生抑制基因(HSG)的单核苷酸多态性(SNP),以揭示HSG SNP与高血压之间的关系。
选取74名血压正常者(男38名,女36名)、51名原发性高血压患者(男27名,女24名)和20名有原发性高血压家族史的高血压患者(男9名,女11名),平均年龄分别为(54±8)岁、(57±8)岁和(38±22)岁。采集他们的外周静脉血标本,然后提取DNA。设计合适的引物通过PCR进行DNA扩增。不同组的每个PCR产物用ABI PRISM 377-DNA测序仪进行测序,并比较其碱基组成和同一片段的特征。
高血压患者的血肌酐(CRE)和尿素氮(BUN)水平显著高于血压正常者(P<0.01)。高血压患者和有原发性高血压家族史的高血压患者的收缩压和舒张压显著高于血压正常者(P<0.01和P<0.05)。HSG第12内含子存在三种SNP(1q82139 G/A、82153C/G和82273G/-),高血压患者与血压正常者之间以及有家族史的高血压患者与血压正常者之间,1q82153C/G和82273G/- SNP存在显著差异(P<0.05和P<0.01以及P<0.01和P<0.01)。并且,在不同人群中可发现C/G等位基因和G缺失有类似差异。此外,1q82153的CC基因型在人群中常见(P<0.01),G缺失在有原发性高血压家族史的中国汉族人群中更常见。三组之间1q82139 G/A突变无显著差异。
肾功能指标(CRE和BUN)的检测可能反映高血压的早期进展和靶器官损害。HSG第12内含子存在三种突变(1q82139 G/A、82153 C/G和82273 G/-)。1q82139 G/A可能是无义突变,不同中国汉族人群之间1q82153 C/G和1q82273 G/- SNP及基因频率存在显著差异,可能是原发性高血压的独立危险因素。