摘要
目的了解Ｄｕｃｈｅｎｎｅ／Ｂｅｃｋｅｒ肌营养不良症（ＤＭＤ／ＢＭＤ）基因缺失的分布及其与表型的关系。方法采用１８对引物多重聚合酶链反应（ｍＰＣＲ）分两步对９６例ＤＭＤ／ＢＭＤ进行筛查。结果用第一组引物检出４９例缺失，第二组引物检出１１例缺失，分别占全长ｃＤＮＡ探针检出缺失的７９％和１８％，两组引物检出缺失的总和占全部缺失的９７％。６０例缺失中，ＤＭＤ４２例（７０％），中间型３例（５％），ＢＭＤ１３例（２２％），未分类２例（３％）。４３例（７２％）缺失分布于外显子４４～５２，１７例（２８％）分布于外显子１～１９。结论基因缺失主要分布于基因３′侧外显子４４～５２和５′侧外显子１２～１９两个热区。临床表型与基因缺失类型有密切关系，４１例移码缺失破坏了翻译阅读框架而导致基因功能丧失，表型为严重的ＤＭＤ，１１例整码缺失位于外显子２～４３，基因部分功能保留，表型为较轻的中间型和ＢＭＤ。
Objective To analyse the deletion distribution and the relation of distribution of gene deletions and phenotype in Duchenne/Becker muscular dystrophy (DMD/BMD). Methods Ninety six patients with DMD/BMD were screened with the multiplex polymerase chain reaction (mPCR) amplification using 18 pairs of primers. Results Forty nine deletions were detected with the first set and 11 with the second set which accounted for 79% and 18% of those detected by full length cDNA probes respectively. These two multiplex reactions detected about 97% of deletions in DMD/BMD patients. In 60 deletions, 42 were of DMD (70%), 3 intermediate (5%), 13 BMD (22%), and 2 cases (3%) were not classified. Forty three deletions (72%) were located in exons 44～52 and 17 (28%) in exons 1～19. Conclusions The gene deletions were mainly distributed in the 3′ terminus of the gene central region around exons 44～52 and 5′ terminus of the gene around exons 12～19. The phenotype was associated with the type of gene deletion in DMD/BMD. The phenotype of 41 frameshift deletions was severe DMD, which disrupted the reading frame, resulting in the loss of the gene function. The phenotype of 11 in frame deletions distributed in exons 2～43 with partial gene functions was intermediate patient and BMD.
出处
《中华儿科杂志》
CSCD
北大核心
1998年第4期233-236,共4页
Chinese Journal of Pediatrics
