A novel cryptic exon identified in intron 67 of the dystrophin gene

• 作 者: ZhujunZhang;ChangLiu;
• 机 构: Department of Pathology, Medical School of NankaiUniversity, Tianjin 300071 ,China
• 出 处: 2015中国遗传学会大会
• 发表日期: 2015年期

　　Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene, a largest human gene contains 79 exons interrupted by extreme large size of introns.How the dystrophin exon is recognized and proper spliced by spliceosome is still largely unkown.In this study, we identified a novel cryptic exon in intron 67 of the dystrophin gene in a DMD patient with a duplication of exon 68.The cryptic exon contains 204 bp sequence that precisely inserted between exons 67 and 68 in one of the dystrophin transcripts from lymphocytes of the index case.This sequence corresponding to part of the intron 67, and possess the splicing donor and acceptor sites, as well as branch point.We compared cryptic exon with authentic dystrophin exons, and found that cryptic exon has weaker splicing parameters.Our results may help to understand the exon definition and splicing regulation of the dystrophin gene.