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目的应用荧光引物建立进行性肌营养不良产前诊断连锁分析方法。方法应用不同荧光染料标记7对dystrophy基因内部的短串联重复序列5’-5n4、DXS206、5’-7n4、DXS1238、DXS1237、DXS1236和DXS1235,经PCR扩增后,采用ABI3500测序仪进行毛细管电泳,对5个Duchenne型肌营养不良症(DMD)家系进行连锁分析,进行胎儿产前诊断。结果 2个胎儿被检测出携带与先证者相同的X染色体遗传片段,其中1个SRY基因检测阳性,建议引产;1个SRY基因检测阴性,建议继续妊娠;另外3个胎儿未检测出与先证者携带相同的X染色体遗传片段,建议继续妊娠。结论该方法方法操作简便、敏感、准确,用于产前诊断和携带者检出,可在临床推广运用。
Objective To establish a method for prenatal diagnosis of progressive muscular dystrophy using fluorescent primers. Methods Seven pairs of short tandem repeats (5’-5n4, DXS206, 5’-7n4, DXS1238, DXS1237, DXS1236 and DXS1235) of dystrophy gene were labeled with different fluorescent dyes. After amplified by PCR, ABI3500 sequencer was used for capillary electrophoresis. Five Duchenne muscular dystrophy (DMD) pedigrees were analyzed by linkage analysis for fetal prenatal diagnosis. Results Two fetuses were found to carry the same X chromosome genetic fragment as the proband, of which one was positive for SRY gene and recommended induction of labor; one was negative for SRY gene and recommended to continue with pregnancy; and the other three fetuses were not detected Candidates carry the same X chromosome genetic fragment, it is recommended to continue pregnancy. Conclusion The method is simple, sensitive and accurate for prenatal diagnosis and detection of carriers, which can be used in clinic.