血友病A FⅧ基因内含子22重组基因型及检测方法  

FⅧ Intron 22 Homologous Region Mediated Recombinations and Genotyping Methods of Hemophilia A——Review

作　　者：郭志萍[1] 杨林花[1] 

机构地区：[1]山西医科大学第二医院血液科,山西太原030001

出　　处：《中国实验血液学杂志》2014年第3期865-868,共4页Journal of Experimental Hematology

基　　金：国家自然科学基金资助项目(81270587);2012国家卫生部卫生行业科研专项(201202017);山西省卫生厅科技攻关计划招标项目(20100111);山西省回国留学人员重点科研项目(2009重点7)

摘　　要：FⅧ基因内含子22重复序列发生染色体内相反方向的同源重组引起内含子22倒位,导致约45%-50%的重型血友病A;而同一染色体内、同源染色体间或染色单体之间的相同方向内含子22重复序列(intron 22homologous region,int22h)的重组导致两序列中间区域的复制或缺失,可以引起内含子22倒位的检测出现假阳性或假阴性。改良的长距离PCR及反向转变PCR(inverse shifting PCR,IS-PCR)可用于区分上述所有可能的int22h重组基因型。The intron 22 inversion is caused by intrachromosomal homologous recombination of the Int22h （ intron 22 homologous region） repeats in opposite orientation, accounting for almost 45% -50% of all cases of severe hemophilia A. By contrast, recombinations between similarly oriented int22h repeats in the same chromosome, homologous chromosomes or chromatids may cause deletion or duplication of the intermediate region between the two int22h copies, resulting in false-positive or false-negative possibility that obscure the characterization of intron 22 inversion. The modified long distance PCR（LD-PCR） and inverse shifting PCR（IS-PCR） would distinguish all the possible int22h- mediated rearrangements.

关 键 词：血友病A 凝血因子Ⅷ基因 内含子22 基因重组 

分 类 号：R554.1[医药卫生—血液循环系统疾病]