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=0.4836,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=0.5204,女性患病率为212/442=0.4796,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。
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.
出处
《中国组织工程研究与临床康复》
CAS
CSCD
北大核心
2010年第15期2828-2832,共5页
Journal of Clinical Rehabilitative Tissue Engineering Research
基金
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"~~
