Cao Li-juan, Wang Zhao-yue, Li Hong, Wang Wei, Zhang Wei, Ding Jie, Yu Zi-qiang, Bai Xia, Ruan Chang-geng
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, People's Republic of China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Dec;28(6):679-82. doi: 10.3760/cma.j.issn.1003-9406.2011.06.018.
To provide genetic consulting and prenatal diagnosis for two families with congenital factor V deficiency based on the known mutations of factor V gene (G16088C and G69969T).
Chorionic DNA was obtained at 12 weeks of gestation and analyzed to exclude maternal cell contamination through microsatellite DNA analysis. It was then amplified with PCR and sequenced to determine the presence of mutations in exons 3 and 23. Factor V activity of the blood was assayed at 22 weeks of gestation and 6 months after birth.
The fetus in case 1 was found to be a heterozygous carrier of the G16088C mutation, for whom factor V activity of the cord blood and peripheral blood were 15% and 53%, respectively. Fetus 2 did not carry the familiar G69969T mutation, for whom the factor V activity of cord blood and peripheral blood has measured 32% and 93%, respectively. Follow-up studies demonstrated that the two infants were both in good health without a tendency for bleeding.
In both cases, the genotypes were consistent with the phenotypes. This is the first report of prenatal diagnosis of congenital factor V deficiency.
基于已知的凝血因子V基因（G16088C和G69969T）突变，为两个先天性凝血因子V缺乏症家庭提供遗传咨询和产前诊断。
在妊娠12周时获取绒毛膜DNA，通过微卫星DNA分析进行检测以排除母体细胞污染。然后采用聚合酶链反应（PCR）进行扩增并测序，以确定外显子3和23中是否存在突变。在妊娠22周和出生后6个月时检测血液中的凝血因子V活性。
病例1中的胎儿被发现为G16088C突变的杂合携带者，其脐带血和外周血的凝血因子V活性分别为15%和53%。胎儿2未携带常见的G69969T突变，其脐带血和外周血的凝血因子V活性分别为32%和93%。随访研究表明，这两名婴儿均健康状况良好，无出血倾向。
在这两个病例中，基因型与表型一致。这是先天性凝血因子V缺乏症产前诊断的首次报道。
