遗传性因子Ⅶ缺乏症一家系基因分析  

Genetic analysis of hereditary factor Ⅶ deficiency from a Chinese pedigree

作　　者：吴玉水[1] 杨文西[2] 方国安[2] 王瑶[1] 兰风华[1] 朱忠勇[1] 

机构地区：[1]南京军区福州总医院全军医学检验中心实验科,福州350025 [2]浙江省舟山市人民医院

出　　处：《中华医学杂志》2000年第12期904-906,共3页National Medical Journal of China

摘　　要：目的　鉴定遗传性凝血因子Ⅶ (FⅦ )缺乏症一家系的FⅦ基因突变。方法　应用聚合酶链反应 (PCR)分段从基因组DNA扩增出先证者及正常人的FⅦ基因各外显子DNA片段 ,经PCR产物直接测序法 ,分析各片段序列 ;采用PCR结合限制性内切酶HgiCI酶切分析先证者及其家系成员的FⅦ基因组DNA片段。结果　先证者的FⅦ基因第 32 9密码子存在TGT→GGT错义突变 ;限制性内切酶酶切的结果确证先证者为C32 9G纯合型突变 ,家系中有 3个成员为C32 9G杂合型突变。结论　在国内外首次发现存在于遗传性FⅦ缺乏症患者的FⅦ基因第 32 9密码子TGT→GGT突变 ,导致所编码的半胱氨酸被甘氨酸替代 ;PCR结合限制性内切酶HgiCI酶切分析可用于该突变的快速诊断。Objective To identify the mutation in coagulation factor Ⅶ gene from a Chinese patient with hereditary coagulation factor Ⅶ deficiency. Methods The genomic DNA fragments of FⅦ gene from a propositus and normal subjects were amplified using polymerase chain reaction (PCR), and analyzed with direct sequencing of PCR products. The PCR amplified genomic DNA fragments of FⅦ gene from the propositus and her family members were analyzed using restriction enzyme Hgic Ⅰ. Results The FⅦ gene sequences of normal subjects were identical to the data published, while a missense mutation (TGT→GGT) was found at codon 329 in FⅦ gene of the propositus. The heterozygous condition for the mutation was revealed in her three family members. Conclusion We have found a novel mutation (TGT→GGT ) at codon 329 in FⅦ gene of a patient with hereditary FⅦ deficiency, which leads to a cystein residue replaced by a glysine. PCR combined with restriction enzyme Hgic Ⅰ digestion would be a rapid diagnostic method for this mutation.

关 键 词：遗传性因子Ⅶ缺乏症 基因突变 家系 诊断 PCR 

分 类 号：R394[医药卫生—医学遗传学]