中国组织工程研究

中国组织工程研究

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广东家族性原发性高血压遗传方式分析：多中心调查

李白霓，陈伟强，毛建文，陈红梅，张咏莉，李红枝   

  1. 广东药学院生物教研室，广东省广州市  510006 
  • 出版日期:2010-04-09 发布日期:2010-04-09
  • 通讯作者: 李红枝，教授，广东药学院生物教研室，广东省广州市 510006 lihong581110@163.com
  • 作者简介:李白霓★，女，1961年生，汉族，湖南省常德市人， 1987年中山大学毕业，硕士，讲师，主要从事医学遗传学和细胞生物学方面的研究。 libaini2005@126.com
  • 基金资助:

    广州市科技局计划项目(2005J1-C0291)“HCV 序列特异性 M1GS 核酶的构建及其抗病毒的研究”。

Genetic patterns of familial essential hypertension: A multi-center investigation 

Li Bai-ni, Chen Wei-qiang, Mao Jian-wen, Chen Hong-mei, Zhang Yong-li, Li Hong-zhi   

  1. Department of Medical Biology, Guangdong Pharmaceutical University, Guangzhou  510006, Guangdong Province, China
  • Online:2010-04-09 Published:2010-04-09
  • Contact: Li Hong-zhi, Professor, Department of Medical Biology, Guangdong Pharmaceutical University, Guangzhou 510006, Guangdong Province, China lihong581110@163.com
  • About author: Li Bai-ni★, Master, Lecturer, Department of Medical Biology, Guangdong Pharmaceutical University, Guangzhou 510006, Guangdong Province, China libaini2005@126.com
  • Supported by:

    the Plan Projects of Guangzhou Science and Technology Bureau, No. 2005J1-C0291*

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摘要：

背景：原发性高血压的发病机制与遗传有关且多数人认为其遗传方式为多基因遗传。作者在广东多年的遗传病临床实习带教中，观察到许多高血压家系特征与常染色体显性遗传极为相似。
目的：探讨家族性高血压的遗传方式。
方法：采用家系分析、Smith无偏差校正法、多基因分析法对广东药学院4个附属医院以及广东地区8所县医院的高血压有关专科就诊的具有家族史、24~88岁的高血压患者及家系进行遗传方式分析。
结果与结论：调查的215个核心家系的1326人中，总同胞数为914人，男483人，女431人，其中患者442例，男230例，女212例。亲属的患病率为442/914=0.483 6，与常染色体显性遗传的理论值0.5接近(P > 0.05)。男性患病率为230/442=0.520 4，女性患病率为212/442=0.479 6，符合常染色体显性遗传男女发病机会均等这一理论假设。215个核心家系中的211个核心家系其高血压的遗传方式支持常染色体显性遗传。由多基因分析可知本研究中家族性原发性高血压家系的观察值为63.63，与常染色体显性遗传的期望值65.79最接近，并与多基因遗传的期望值11.47相差甚远。因此，多基因分析结果表明，家族性高血压遗传方式支持常染色体显性遗传。调查结果提示家族性原发性高血压有单基因的常染色体显性遗传方式，又有单基因的常染色体隐性遗传方式。提示有家族史的原发性高血压患者可为高危人群，注意预测亲属的发病风险，对预防原发性高血压有一定的指导意义。

关键词: 家族性高血压, 多基因检验, Smith无偏差校正法, 常染色体显性遗传

Abstract:

BACKGROUND: It has been recognized that the attack of essential hypertension (EHT) is closely correlated with genetic predisposition, and polygenic inheritance is involved in this process. However, due to the first writer clinical practice of hereditary diseases in Guangdong, many hypertension family characteristics are extremely similar to autosomal dominant inheritance.
OBJECTIVE: To explore the genetic patterns of familial EHT for Guangdong Han population.
METHODS: Using familialanalysis, the “Smith” agonic revise method and multifactorial inheritance tests, the genetic patterns of 24-88-year-old EHT patients with family history in four affiliated hospitals and eight county hospitals in Guangdong region was studied.
RESULTS AND CONCLUSION: In 215 core family of 1326 people in the survey, a total of 914 people were compatriots on both sides (483 males and 431 females), contained 442 patients (230 males and 212 females). The prevalence of relatives was 442/914 = 0.483 6, which was closed to the theoretical value of 0.5 of autosomal dominant inheritance (P > 0.05). The prevalence rate of male was 230/442 = 0.520 4, and the prevalence rate of female was 212/442 = 0.479 6. It was accordance with the inspection by x2fits autosomal dominant inheritance onset of equality of opportunity between men and women of the theoretical assumptions. The genetic hypertension of 211 core pedigree of 215 core families supported autosomal dominant inheritance. By tests for multifactorial inheritance, the observed value of the familial EHT pedigrees in our study was 63.63, closest to the expected value of 65.79 of autosomal dominant, but far from the expectations of 11.47. The multiple genes analysis revealed that the way of familial genetic EHT supported autosomal dominant inheritance and recessive transmission. The results demonstrated that a family EHT genetic patient was early prediction of high-risk population of EHT, which should pay more attention.

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