中文摘要：

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，男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。

英文摘要：

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.