凝血因子VII基因突变的检测

目的为检测福建省福州市一个遗传性凝血因子VII缺乏症先证者的因子VII基因突变类型。方法采有PCR结合限制性内切酶HgiCI，以先证者及其母亲的FVII基因片进行分析。结果表明先证者的FVII基因为C329G纯合子，其母亲为杂合子。结论该家系为FVII基因存在C329G突变的第2个遗传性因子VII缺乏症家系。

The detection of factorVII gene mutation

To identify mutation in the factor VII gene of a patient with hereditary factor VII deficiency from Fuzhou city of Fujian province,we analyzed the factor VII gene of the patient and her mother by using polymerase chain reaction combined with restricted endonuclease enzyme HgiC I digestion,The results showed a homozygous C329G mutation in the patient,and a heterozygous one in her mother.This is the second pedigree of hereditary factor VII deficiency in chinese with factor VII gene C329G mutation.