摘要
目的对临床疑诊Duchenne/Becker肌营养不良患儿进行基因诊断,同时进行携带者筛查。方法收集先证者及其家系成员的临床资料,采用多重连接依赖的探针扩增(MLPA)方法对患儿及其母亲的DMD基因进行突变检测。结果确诊2例患儿均为DMD基因的缺失突变,母亲为携带者。先证者1为DMD基因45-47号外显子缺失,其母亲为45-47号外显子的杂合缺失突变;先证者2为DMD基因20-34号外显子缺失,其母亲为20-34号外显子的杂合缺失突变。结论MLPA进行DMD基因检测是确诊Duchenne/Becker肌营养不良的快速方法,同时可进行携带者筛查,为遗传咨询提供准确信息。
Objective To explore the gene diagnosis of suspected Duchenne muscular dystrophy （DMD）/Becker muscular dystrophy （BMD） patients and screen the carrier. Methods Clinical features of 2 Chinese families were collected. Genomic DNA was extracted using standard procedures from the peripheral blood leukocytes, and muhiplex ligation dependent probe amplification （MLPA） was ap- plied to detect the DMD gene for identifying the genetic mutation. Results The proband 1 had deletions of exons 45 -47, and his mother had heterozygous deletions of exons 45 - 47. The proband 2 had deletions of exons 20 - 34, and his mother had heterozygous de- letions of exons 20 - 34. Conclusion The MLPA is a simple and quick diagnostic tool for DMD/BMD and its carriers,and also help- ful in genetic counseling.
出处
《山西医科大学学报》
CAS
2013年第4期278-280,326,327,共5页
Journal of Shanxi Medical University
