联合应用MLPA及连锁分析对广西地区Duchenne型假肥大性肌营养不良症产前诊断分析

Joint application of MLPA and linkage analysis for prenatal diagnosis of DMD pedigrees in Guangxi

目的建立Duchenne型肌营养不良(DMD)家系的产前诊断方法并在广西推广应用。方法采用MLPA技术及连锁分析技术对广西地区8个DMD家系进行了DMD基因诊断及产前诊断。结果 6例先证者检测出DMD基因缺失,产前诊断胎儿均未检测出DMD基因缺失。余下2个家系的先证者基因检测均未检出基因缺失/重复,通过联合应用MLPA和单体型连锁分析,结果产前诊断1例男性胎儿为Duchenne型肌营养不良症患者,另1例女胎未检出DMD基因缺失/重复。遗传咨询后,孕男胎夫妇决定终止妊娠,孕女胎夫妇决定继续妊娠。结论MLPA能有效检出DMD基因的缺失/重复,联合应用MLPA技术及连锁分析技术进行DMD家系产前基因诊断有更高的准确性。

Objective To develop the method for prenatal diagnosis of Duchenne Muscular Dystrophy （DMD） and put it into use in Guangxi.Methods Multiplex ligation-dependent probe amplification （MLPA） and linkage analysis were jointly adopted to give gene diagnosis and prenatal diagnosis of 8 DMD pedigrees. Results The result showed that 6 probands got DMD genetic deletion,while the prenatal diagnosis showed no DMD genetic deletion was detected in fetuses.The other two probands had no DMD genetic deletion/duplication according to the the result.Data from joint application of MLPA and linkage analysis showed that one male fetus got DMD but no DMD genetic deletion/duplica- tion was detected in the female fetus. After genetic counseling, parents of the male fetus decided to terminate pregnan-cy,while the other decided to continue the pregnancy.Conclusion MLPA is efficient in accurately confirming DMD genetic deletion/duplication,and the joint application of MLPA and linkage analysis can offer more accurate results in prenatal diagnosis of DMD pedigree.