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[原发性高血压患者肾素基因的限制性片段长度多态性]

[Restriction fragment length polymorphism of human renin gene in essential hypertension].

作者信息

Dzida G

机构信息

I Katedra i Klinika Chorób Wewnetrznych Akademii Medycznej w Lublinie.

出版信息

Pol Arch Med Wewn. 1996 Aug;96(2):105-10.

PMID:9121997
Abstract

Essential hypertension is a heterogenous multifactorial disease resulting from an interaction between genetic and environmental factors. Nature of genes responsible for the blood pressure regulation is not completely understood. Data from molecular biology studies with animals indicate that renin gene is involved in the pathogenesis of hypertension. Renin gene is one of the major candidate genes contributing to the pathogenesis of essential hypertension in humans. The aim of this study was the assessment of the association of RFLPs of human renin gene with essential hypertension in Polish population and search for the genetic marker of susceptibility to the disease. MspI, HindIII and EcoT141 RFLP in human renin gene locus were studied and polymorphic allele and genotype frequencies in the population of 74 hypertensive and 60 normotensive subjects were compared. MspI and HindIII RFLP analysis has not shown any statistically significant differences in allele and genotype frequencies between hypertensives and normotensives. These RFLPs do not seem to be in association with essential hypertension in studied population. EcoT141 RFLP analysis has not shown statistically significant differences in polymorphic alleles frequencies between examined groups. However, the observed difference between genotype E2O frequencies in hypertensives (0.31) and normotensives (0.12) was statistically significant (p < 0.045). A clinical importance of this finding is not known but genotype E2O seems to be a potential marker of susceptibility to essential hypertension. Further investigations in larger group of patients are required.

摘要

原发性高血压是一种由遗传和环境因素相互作用导致的异质性多因素疾病。负责血压调节的基因本质尚未完全明确。动物分子生物学研究数据表明,肾素基因参与高血压的发病机制。肾素基因是导致人类原发性高血压发病的主要候选基因之一。本研究的目的是评估人类肾素基因限制性片段长度多态性(RFLPs)与波兰人群原发性高血压的相关性,并寻找该疾病易感性的遗传标记。研究了人类肾素基因位点的MspI、HindIII和EcoT141 RFLP,并比较了74例高血压患者和60例血压正常者群体中的多态性等位基因和基因型频率。MspI和HindIII RFLP分析未显示高血压患者和血压正常者之间等位基因和基因型频率存在任何统计学上的显著差异。在研究人群中,这些RFLPs似乎与原发性高血压无关。EcoT141 RFLP分析未显示受检组之间多态性等位基因频率存在统计学上的显著差异。然而,高血压患者(0.31)和血压正常者(0.12)中观察到的基因型E2O频率差异具有统计学显著性(p < 0.045)。这一发现的临床意义尚不清楚,但基因型E2O似乎是原发性高血压易感性的一个潜在标记。需要对更大规模的患者群体进行进一步研究。

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