Dystrophin基因第51号外显子的缺失机制的研究

The investigating the deletion mechanism of 51st exon of dystrophin gene

用DMDcDNA8探针从Dystrophin基因的YAC克隆的Cosmid亚克隆库中筛选到含Dystrophin基因的第51号外显子Cosmid克隆，将该Cosmid亚克隆于pUC118中，获得合Dystrophin基因第51导外星子的3.1kb—HindⅢ片段的亚克隆，该片段的长度为3179bp，含Dystrophin基因第家51号外星子的全部和第50和第51导内含子的部分，对第50和51号内含子的核苷酿顺序分析表明，在这两个内台子中共发现36个短段串联重复顺序．22正向和反向重复顺序和8个同原顺序。提出重复顺序之间的重组可能导致第51号外显子缺失的假设。

With DMDcDNA8 probe, the DMD-Cosmidlibarary from DMD-YAC clones was screened and9 positive DMD-Cosmid clones was obtained. Thecosmid C0461 was confirmed to contain the 51stexon by bouthern hybridizition. The Cosmid wassubcloned into pUCll8 and the subclonecontainning the 3. 1 kb-HindIII fragment wasobtained. The subclone was sequenced completelywith Sanger method. The length of the fragmentwas 3179, including the entire 5lst exon and partial50th and 51st intron seqences- There were 36 shorttandom repeats, 22 direct and inverted repeats,and8 homologous sequences in the intron 50 and 51.The hypothesis,which the recombination of repeatsequences may result in the deletion of 5lst exon,was put forward.