血友病A患者内含子22和内含子1倒位的检测及其意义  

The detection of intron 1 and intron 22 inversion in patients with hemophilia A and significance

作　　者：秦秀玉[1] 杨林花[1] 刘秀娥[1] 赵华[1] 张睿娟[1] 梁弘正[1] 陈剑芳[1] 

机构地区：[1]山西医科大学第二医院血液科,太原030001

出　　处：《临床血液学杂志》2012年第5期573-575,579,共4页Journal of Clinical Hematology

基　　金：国家自然科学基金资助项目(No:1070412);山西省归国留学基金项目资助(No:2009重点7);卫生公益性行业科研专项经费项目(No:201202017)

摘　　要：目的:通过检测血友病A患者凝血因子Ⅷ基因内含子22、内含子1倒位的发生率,改进并完善血友病患者内含子22倒位、1倒位的实验室检测方法,并探讨其与FⅧ抑制物产生的相关性。方法:选取130例经一期法检测FⅧ:C确诊的血友病A患者,采用Bethesda方法进行FⅧ抑制物检测。采用双管多重PCR扩增技术进行内含子1倒位检测,采用长距离PCR技术进行内含子22倒位检测。结果:130例血友病A患者中发生1倒位2例(1.5%),2例均为重型血友病A患者,占91例重型血友病A患者的2.2%。71例HA患者内含子22倒位阳性患者18例(23.9%),其中34例重型血友病A患者中22倒位阳性16例,占重型血友病A的47.1%。结论:FⅧ基因内含子倒位检测方法简便、易操作,适合临床开展先证者筛查,对于HA患者倒位基因携带者及家系成员调查具有重要的意义。Objective：To improve and consummate the detection of the intron 22 inversion and intron 1 inversion in hemophilia A patients by testing the incidence rate of intron 1 inversion and intron 2 inversion in HA patients,and preliminarily investigate the correlation between the intron inversion and FⅧ inhibitor.Method：Totally 130 HA patients whose FⅧ：C activity were measured by one-stage coagulation assay were enrolled.FⅧ inhibitor was screened by Bethesda method.Samples from patients were directly detected by long-distance PCR method for inversion 22 and multiplex PCR method.Result：In 130 unrelated patients,2 severe patients were found intron 1 inversion which accounted for 1.5 percents of 130 patients and 2.2 percents of 91 severe patients.18 patients were found intron 22 inversion among the 71 patients,that the incidence rate was 23.9 percents.There were 34 severe HA patients in the 71 patients,16 patients were found intron 22 inversion positive which accounted for 47.1 percents of total 34 severe patients.Conclusion：The detection methods of intron inversion in FⅧ gene were easily to operated,and also very appropriate for the development of the clinical detection of propositus,so they will be play a important role on the inversion analysis in HA patients,the carriers and the family members.

关 键 词：血友病A 凝血因子Ⅷ 内含子22倒位 内含子1倒位 

分 类 号：R554.1[医药卫生—血液循环系统疾病]