DMD基因内微卫星标记对女性携带者的诊断意义

目的对1临床诊断为Duchenne肌营养不良家系中两名女性个体进行连锁分析,以确定她们是否为Duchenne肌营养不良致病基因携带者。方法抽取家系成员外周血并提取基因组DNA,选取3个DMD基因内微卫星标记作引物进行PCR扩增,扩增产物经ABI PRISM377测序仪电泳后进行连锁分析。结果在我们所研究的Duchenne肌营养不良家系中,一女性个体为Duchenne肌营养不良致病基因携带者,而另一女性个体为正常基因型。结论基因内标记可以排除染色体交换,运用DMD基因内微卫星标记可以成功诊断Duchenne肌营养不良家系中女性个体是否为致病基因携带者。

Diagnostic value of microsatellite markers in DMD gene for female carrier

Objective：To identify whether two female individuals in a pedigree with Duchenne muscular dystrophy carried disease-causing gene using linkage analysis.Methods：Genomic DNA was extracted from peripheral leukocytes of some individuals in the Duchenne muscular dystrophy pedigree.Polymerase chain reactions were performed using three microsatellite markers as primer pairs in DMD gene.Products were separated on an ABI PRISM 377 sequencer,and linkage analysis was performed according to product sizes.Results：One female individual in the Duchenne muscular dystrophy pedigree was a DMD disease-causing gene carrier,while the other was wild type in this study.Conclusion：Based on microsatellite marker in gene excluding chromosome exchange,it can be used to identify whether one female individual in a Duchenne muscular dystrophy pedigree carries disease-causing gene.