论文部分内容阅读
X连锁隐性遗传的DMD和BMD位于同一基因位点,1987年Koenig等分离到完整的长14kb的DMD cDNA后,许多实验室应用该探针在30～60%的DMD/BMD患者中检测到了DNA缺失,但至今没有人报道过缺失的大小或位置与临床分型间的关系。本文详细分析了日本DMD和BMD患者的DNA缺乏,发现日本人DMD和BMD患者的基因缺失有着不同特性。
X-linked recessive DMD and BMD locates at the same locus. After the complete 14-bp DMD cDNA was isolated by Koenig et al. In 1987, many laboratories detected this probe in 30-60% of DMD / BMD patients DNA is missing, but no one has ever reported the relationship between the size or location of the loss and the clinical classification. This article provides a detailed analysis of DNA deficiency in Japanese patients with DMD and BMD and found that Japanese patients with DMD and BMD have different gene deletions.