倒位PCR技术在血友病A基因诊断中的应用及改进  

Improvement of I-PCR and its application in gene diagnosis of hemophilia A

作　　者：陈淑芬[1] 蒋玮莹[1] 

机构地区：[1]中山大学中山医学院医学遗传学教研室,广州510080

出　　处：《中华血液学杂志》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）

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.

关 键 词：倒位聚合酶链反应 血友病A 基因倒位 产前诊断 

分 类 号：R686[医药卫生—骨科学]