[Genetic Diagnosis and Phenotype Analysis for 3 Patients with Hereditary Coagulation Factor Ⅶ Deficiency].

To investigate the gene mutations types and the clinical characteristics in 3 patients with hereditary coagulation factor Ⅶ deficiency.The phenotype diagnosis was validated by detecting the coagulation parameters including prothrombin time (PT)，activated partial thromboplastin time (APTT), fibrinogen (FIB), FⅦ activity (FⅦ: C) and specific antigens (FⅦ: Ag) of proband and its family members. All exons, exon-intron boundaries, 5＇ untranslated regions and 3＇ untranslated regions of F7 gene were amplified with PCR. Potential mutations were detected by direct sequencing of purified PCR products. Suspected mutations were confirmed by sequencing of the opposite strand.A total of 5 different mutations were identified in 3 patients with hereditary coagulation factor Ⅶ deficiency and family members, including 4 misssense mutations and 1 splice site mutation. Out of 3 cases of hereditary coagulation factor Ⅶ deficiency 2 had double heterozygous mutation, I had homozygous mutations. Patient 1 had p.His408Gln with p.Arg413Gln double heterozygous mutations, her sister had p.His408Gln with p.Arg413Gln double heterozygous mutations, another one had p.His408Gln mono-heterozygous mutation, their correspo FⅦ: C were 5%, 3%, 75%. Patient 2 had p.Arg364Gln with p.His408Gln double heterozygous mutations, her brother had p.Arg364Gln with IVS6-1G＞A double heterozygous mutations, their corresponding FⅦ: C were 2.0%, 2.0%. Patient 3 had p.Arg337Cys homozygous mutation, FⅦ: C was 3.0%.A total of 5 different mutations were identified in 3 patients with hereditary coagulation factor Ⅶ deficiency, the p.His408Gln is a common mutation, the FⅦ: C and FⅦ: Ag have no correlation with clinical phenotypes.遗传性凝血因子Ⅶ缺陷症患者的基因诊断与表型分析.探讨3例遗传性凝血因子Ⅶ缺陷症患者的基因突变类型及其临床特征.检测先证者及其家系成员凝血酶原时间（PT）、活化部分凝血活酶时间（APTT）、纤维蛋白原（FIB）、凝血酶时间（TT）、FⅦ活性（FⅦ: C）及FⅦ抗原（FⅦ: Ag）等进行表型诊断；用DNA直接测序法分析先证者F7基因的全部外显子、侧翼、5＇和3＇非翻译区及家系成员相应的突变位点区域，用反向测序证实所发生的突变.在3例患者及其家系成员中发现5种基因突变，包括4种错义突变和1种剪切位点突变。在3例遗传性FⅦ缺陷症患者中有2例为双杂合突变、1例为纯合突变。患者1为p.His408Gln和p.Arg413Gln双杂合突变，其家系成员中有一位为p.His408Gln和p.Arg413Gln双杂合突变，1例为His408Gln突变的杂合子，其相应FⅦ: C分别为5.0%、3.0%和75.0%。；患者2为p.Arg364Gln和p.His408Gln双杂合突变，其家系成员为p.Arg364Gln和IVS6-1G＞A双杂合突变，其相应FⅦ: C分别为2.0%、2.0%；患者3为p.Arg337Cys纯合突变， FⅦ: C为3％.在3例遗传性FⅦ缺陷症患者及其家系成员中发现5种基因突变，其中p.His408Gln突变较为常见，而临床表现及出血程度与FⅦ: C及FⅦ: Ag无相关性.