中国汉族人群的遗传性活化蛋白C抵抗症遗传特点观察

目的:研究中国汉族遗传性易栓症家系的遗传基础,探索汉族人群的遗传性活化蛋白C抵抗(Resistance ofactivated protein C,APCR)症遗传特点。方法:通过临床检查和家系调查,分析该家系发病的分子基础。结果:易栓症相关基因(FV)第10号外显子均不存在FVLeiden突变。但发现存在FVrs6020A-G纯合突变。结论:该遗传性APCR症家系中排除了FVLeiden突变,提示APCR存在遗传异质性;发现了FVrs6020A-G纯合突变,提示在中国汉族人群中存在与APCR相关新的FV基因突变。

Investigate the Genetic Basis of Inherited Thrombophilia in Chinese Han Population

Objective This study investigate of the genetic basis of Inherited Thrombophilia in Chinese Han population,as well as explore the Resistance of activated protein C(APCR) genetic characteristics in Han population.Methods We analyzed the molecular correlates of the disease by the clinical examination,pedigree and mutation analysis.Results Our findings showed no FV Leiden mutation in FV gene related to Inherited Thrombophilia,but mutation in FV rs6020A-G.Conclusion FV Leiden mutation was excluded in APCR family,which suggested the existence of APCR genetic heterogeneity.Furthermore,FV rs6020A-G homozygous mutation was found and suggested that Chinese Han population might exist APCR associated with the new FV gene mutation.