F8基因倒位检测及其在甲型血友病基因诊断中的应用  

Application study on inversion diagnosis of F8 gene in hemophilia A

作　　者：綦凌燕[1] 金春莲[1] 林长坤[1] 任梅红[1] 董文翰 孙开来[1] 

机构地区：[1]中国医科大学基础医学院医学遗传学教研室,沈阳110001 [2]附属第二临床医院小儿内科

出　　处：《中华医学遗传学杂志》2007年第4期405-408,共4页Chinese Journal of Medical Genetics

基　　金：“十五”国家科技攻关课题（2004BA720A04）

摘　　要：目的建立尼基因第22内含子倒位突变检测新方法，应用于甲型血友病（hemophilia A）基因诊断。方法应用长距离PCR（long distance-polymerase chain reaction，LD-PCR）、倒位PCR（inversion-PCR，I-PCR）技术检测31例甲型血友病患者尼基因22内含子倒位；对于倒位突变阳性患者的母亲应用上述两种方法进行携带者诊断；而对倒位携带者孕妇于孕中期抽取羊水，进行产前基因诊断。结果31例甲型血友病患者中查出7例存在倒位突变；4例倒位突变阳性患者的母亲有3。例为倒位携带者；对1例倒位携带者孕妇进行了产前诊断，确定其胎儿无倒位突变。结论LD-PCR、I-PCR技术可快速检测尼基因22内含子倒位突变，可应用于患者及携带者基因诊断；I-PCR可用于尼基因22内含子倒位的产前基因诊断。Objective To establish an effective method of genetic diagnosis on hemophilia A （HA） by detecting the inversion mutation in intron 22 ofF8 gene. Methods Intron 22 inversion mutation in F8 gene was detected by using long distance-polymerase chain reaction （LD-PCR） and inversion-PCR （I-PCR） in 31 HA patients. The mothers of HA patients with intron 22 inversion mutation were selected to carrier diagnosis and amniotic fluid of the pregnant women with inversion mutation was collected at intermediate stage of gestation, and used to prenatal genetic diagnosis. Results Seven patients showed F8 gene inversion mutation in thirty-one patients. Three in four mothers of HA patients with intron 22 inversion mutation were diagnosed as carriers. The prenatal diagnosis result indicated that the fetus conceived in the HAcarrier woman was normal individual. Conclusion The detection of intron 22 inversion mutation by LD-PCR and I-PCR is time-saving, and can be used in prenatal diagnosis on HA.

关 键 词：长距离PCR 倒位PCR 甲型血友病 尼基因 

分 类 号：R686[医药卫生—骨科学]