广东医学2018，Vol.39Issue(4)：521-523,3.
血友病基因携带孕妇258例产前诊断结果分析
Prenatal diagnosis results of 258 pregnant women carrying hemophilia gene
摘要
Abstract
Objective To evaluate the value of the combined method of several genetic testing for hemophilia, through analyzing the prenatal diagnosis results of pregnant hemophilia gene carriers. Methods Genetic tests were done in 258 carriers of hemophilia gene who had their prenatal diagnosis, using combined LD-PCR, MlPA, and gene sequencing. At the gestation age of 11-13 weeks, DNA tests of fetus were done by chorionic aspiration. At the gestation age of 18-28 weeks, fetus had their test by amniocentesis. Positive rates of genetic test and of each method were calculated. Results Among 258 cases of pregnant hemophilia carriers, Hemophilia A accounted for 225 cases ( 87. 2％) , while hemophilia B for 33 cases ( 12. 8％) . In the prenatal diagnosis, positive hemophilia A was in 84 cases ( 37. 3％) , while hemophilia B in 5 cases ( 38. 6％) . No adverse event was reported in 131 cases of chorionic aspiration and 127 cases of amniocentesis. In 84 cases of hemophilia A, 39 were Intron 22 inversion in F8 gene, 4 were Intron 1 inversion, 3 with large deletion in genes, and 38 with spot mutation. Among 5 patients with hemophilia B, 2 had G-A spot mutation in Exon 4, 2 had lost G base in 5 Exon, and 1 had A-T mutation in 4th base of 5'side of Intron 5. Fetus tested negative were followed up for 1-2 years. No false negative was reported. Conclusion Combination of LD-PCR, MLPA and gene sequence can serve as an effective diagnosis for hemophilia.关键词
血友病基因/产前诊断/长距离PCR/多重连接依赖性探针扩增技术/基因测序Key words
genetic test/prenatal diagnosis/LD-PCR/MLPA/gene sequencing引用本文复制引用
肖超群,王克,杨芳,杨土银,李思思,王志坚..血友病基因携带孕妇258例产前诊断结果分析[J].广东医学,2018,39(4):521-523,3.基金项目
广东省科技计划项目(编号:2015B010106002) （编号:2015B010106002）
