中国人杜氏肌营养不良症患者基因缺失的研究

A STUDY ON THE GENE DELETIONS IN THE CHINESE DUCHENNE MUSCULAR DYSTROPHY PATIENTS

作者应用从人类 Xp21区分离得的杜氏肌营养不良症(DMD)基因内的8种探针和肌营养不良蛋白基因的 cDNA 探针对69例无亲缘关系的 DMD 进行了基因分析。结果表明应用基因组探针可检测出9例(13%)在 Xp21区域内有不同程度的缺失,如应用系列 cDNA 探针,基因缺失的检出率上升为56.5%。基因缺失的部位集中于 cDNA 探针8和7所检测的区域,占所有基因缺失患者的80%左右。这些结果有助于开展 DMD 的产前诊断。

DNA from 69 unrelated Chinese Duchenne muscular dystrophy(DMD)patients werestudied with both genomic probes within the DMD locus and dystrophin cDNA probes.The results showed that 9 out of the 69 patients(13%)were found to have DNA dele-tion in the Xp21 region if using the genomic probes;however,when using cDNA probes,deletion was detected in 56.5% of the patients.DNA deletions were concentrated in theareas of probe 7 and 8,accounting for about 80% of all deleted patients in this study.All of these results provide valuable information for prenatal diagnosis of DMD.