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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。
OBJECTIVE: To study the genetic basis of hereditary susceptibility pedigrees in Han Chinese and to explore the genetic characteristics of genetic resistance protein C (APCR) in Chinese Han population. Methods: Through the clinical examination and pedigree investigation, analyze the molecular basis of the pedigree. Results: There was no FVLeiden mutation in exon 10 of thrombospondin gene (FV). However, a homozygous mutation of FVrs6020A-G was found. CONCLUSION: The FVLeiden mutation is excluded from the hereditary APCR pedigree, suggesting that there is genetic heterogeneity in APCR. A homozygous FVrs6020A-G mutation was found, suggesting that there is a new FV mutation associated with APCR in Chinese Han population.