遗传性凝血因子Ⅶ缺陷症家系中R152Q及IVS6＋1G→T突变的鉴定  

The identification of R152Q and IVS6 ＋ 1G→T double heterozygous mutation in a Chinese family with inherited F Ⅶdeficiency

作　　者：郑卫东[1] 刘艳辉[1] 陈志红[3] 欧阳维富[1] 范小斌[1] 王发雄[1] 刘辉芳[2] 

机构地区：[1]广东省人民医院病理医学部检验科,广州510080 [2]广东省人民医院儿科,广州510080 [3]广东省人民医院医学研究中心,广州510080

出　　处：《中华检验医学杂志》2008年第1期60-63,共4页Chinese Journal of Laboratory Medicine

基　　金：广东省自然科学基金资助项目（06020907）;广东省医学科研基金资助项目（A2006031）

摘　　要：目的检测1个遗传性凝血因子Ⅶ缺陷症家系中因子Ⅶ基因的突变。方法应用PCR结合直接测序的方法对先证者的因子Ⅶ基因9个外显子及其侧翼序列进行分析，鉴别其中可能存在的基因变异。应用PCR产物反向测序法或PCR限制性内切酶分析技术对突变位点进行确证。随机选取100名健康体检者作为正常对照。结果先证者FⅦ基因第6外显子和第6内含子分别存在R152Q和IVS6＋1G→T杂合突变，家系分析表明这2个突变是双重杂合子型，前者遗传自父亲，后者遗传自母亲。100名健康对照者均未发现R152Q错义突变。结论FⅦ基因第6外显子R152Q错义突变和第6内含子供体剪接位点IVS6＋1G→T突变可能是先证者因子Ⅶ先天性缺陷的原因。Objective To identify the gene mutations of an inherited coagulation factor Ⅶ deficiency pedigree. Methods PCR and DNA sequencing were used to identify the FⅦ gene mutations in the proband. The identified mutations were validated by PCR followed by restriction fragment length polymorphism technique or DNA sequencing. 100 healthy volunteers were chosen randomly as controls. Results R152Q and IVS6 ＋ 1G→T double heterozygous mutations were discovered in the proband. The pedigree analysis showed that R152Q missense mutation inherited from his father, and IVS6 ＋ 1G→T was from his mother. The R152Q missense mutation in exon 6 was not found in 100 healthy volunteers. Conclusion The congenital deficiency of FⅦ in the proband might be caused by the coinheritance of the R152Q missense mutation in exon 6 and the splicing donor site mutation （IVS6 ＋ 1G→ T） in intron 6.

关 键 词：突变 聚合酶链反应 遗传性凝血因子Ⅶ缺陷症家系 Ⅶ基因 鉴定 常染色体隐性遗传病 

分 类 号：R686[医药卫生—骨科学]