摘要
目的对倒位PCR（I-PCR）技术进行改进并应用于血友病A凝血因子Ⅷ（FⅧ）基因倒位突变的检测，探讨其产前诊断价值。方法选取了8个无血缘关系的血友病A家系，应用已改进的I-PCR技术直接检测FⅧ基因第22内含子倒位。对2名孕妇分别于妊娠22及26周抽取胎儿脐静脉血，在检测脐血血浆FⅧ活性的同时应用I-PCR技术进行产前FⅧ基因突变检测。结果8个家系中检出4个家系为FⅧ基因倒位；根据FⅧ活性及基因突变检测结果，2名胎儿均诊断为正常胎儿，1名已出生，经随访与产前诊断结果相符合。结论应用I-PCR技术可以快速有效地进行血友病AFⅧ基因倒位突变的检测并可作为产前诊断的辅助手段。
Objective To improve inversion-polymerase chain reaction （I-PCR） in detection of factor Ⅷ（FⅧ） intron 22 inversion for gene diagnosis and prenatal diagnosis of hemophilia A（HA）. Methods The modified I-PCR was applied to detect FⅧ intron 22 inversion in 8 families with HA. The prenatal diagnosis was performed for 2 pregnant women in the families. The fetal blood samples were obtained by cordocentesis at 22 and 26 weeks gestation respectively. Results Four of 8 HA families were diagnosed to be FⅧ intron 22 inversion. Two fetuses were identified to be normal and one of them was born normal. Conclusion The modified I-PCR enables the gene diagnosis and prenatal diagnosis of FⅧ intron 22 inversion more accurately and rapidly.
出处
《中华血液学杂志》
CAS
CSCD
北大核心
2009年第5期318-320,共3页
Chinese Journal of Hematology
基金
国家自然科学基金（30571025）
关键词
倒位聚合酶链反应
血友病A
基因倒位
产前诊断
Inversion-polymerase chain reaction
Hemophilia A
Gene inversion
Prenatal diagnosis
