多重连接探针扩增技术在凝血因子Ⅸ基因大片段缺失的血友病B基因携带者诊断中的应用  

Carrier diagnosis of F9 gross deletion by multiple ligation-dependent probe amplification in hemophilia B

作　　者：陈星[1] 梁燕[1] 闫梅[1] 刘敬忠[1] 

机构地区：[1]首都医科大学附属北京朝阳医院实验研究中心,100020

出　　处：《中华血液学杂志》2012年第12期1038-1041,共4页Chinese Journal of Hematology

基　　金：北京市优秀人才培养资助项目（2008119030050076）

摘　　要：目的探讨多重连接探针扩增技术（MLPA）在血友病B（HB）基因诊断中的应用。方法采用MLPA和短串联重复序列（STR）基因连锁分析对由于凝血因子IX（F9）基因大片段缺失导致测序失败的2个HB家系进行基因诊断。结果MLPA检测结果显示，2例HB患者内基因存在1或2个外显子的缺失，缺失位置Ratio值〈0．10；患者母亲相应位置Ratio值为0．50±0．05，可判断为携带者；其他女性受检者Ratio值为0．71～1．30，可排除携带者。基因连锁分析与MLPA判断结论一致。结论MLPA为HB的直接基因诊断提供了一种新的方法，可用于测序无法检出的f、9基因大片段缺失的携带者诊断。Objective To investigate the application of muhiplex ligation-dependent probe amplifica- tion （MLPA） in the gene diagnosis of hemophilia B （HB）. Methods MLPA and linkage analysis of short tandem repeat （STR） were used for gene diagnoses of two HB families with gross deletions of F9 gene, which were negative by sequencing. Results The MLPA results indicated the loss of one or two exons in the two patients with the ratio lower than O. 10. Their mothers showed a ratio average of 0.50± 0.05 for the corre- sponding probes, which revealed she was carrier of large deletions of the F9 gene. The ratios of three sisters of the HB patients were normal, which indicated they were non-carriers. Linkage analysis was consistent with MLPA, but sequencing was not conclusive. Conclusion This report illustrated that MLPA technique repre- sented an efficient method to screen F9 gene gross deletions in sequencing undiagnosed carriers of hemophilia B.

关 键 词：多重连接探针扩增技术 血友病B 基因诊断 大片段缺失 

分 类 号：R554.1[医药卫生—血液循环系统疾病]