CAJ | 학술논문

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F9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F9基因大片段缺失的携带者诊断.
목적 탐토다중련접탐침확증기술(MLPA)재혈우병B(HB)기인진단중적응용.방법 채용MLPA화단천련중복서렬(STR)기인련쇄분석대유우응혈인자Ⅸ(F9)기인대편단결실도치측서실패적2개HB가계진행기인진단.결과 MLPA검측결과현시,2례HB환자F9기인존재1혹2개외현자적결실,결실위치Ratio치<0.10;환자모친상응위치Ratio치위0.50±0.05,가판단위휴대자;기타녀성수검자Ratio치위0.71～1.30,가배제휴대자.기인련쇄분석여MLPA판단결론일치.결론 MLPA위HB적직접기인진단제공료일충신적방법,가용우측서무법검출적F9기인대편단결실적휴대자진단.
Objective To investigate the application of multiplex ligation-dependent probe amplification (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 0.10. Their mothers showed a ratio average of 0.50±0.05 for the corresponding 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 represented an efficient method to screen F9 gene gross deletions in sequencing undiagnosed carriers of hemophilia B.