|Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations|
|Wang, Xiaozhu2,3; Wang, Zheng1; Yan, Ming2,3; Huang, Shangzhi1; Chen, Tian-Jian2,5; Zhong, Nanbert2,3,4|
|刊名||BEHAVIORAL AND BRAIN FUNCTIONS|
|WOS标题词||Science & Technology|
|类目[WOS]||Behavioral Sciences ; Neurosciences|
|研究领域[WOS]||Behavioral Sciences ; Neurosciences & Neurology|
|关键词[WOS]||DUCHENNE MUSCULAR-DYSTROPHY ; DEPENDENT PROBE AMPLIFICATION ; X-CHROMOSOME ; SHORT ARM ; MUTATIONS ; LOCUS ; MLPA ; IDENTIFICATION ; PHENOTYPE ; SEQUENCES|
Background: DNA deletion and duplication were determined as the major mutation underlying Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD).
Method: Applying multiplex ligation-dependent probe amplification (MLPA), we have analyzed 179 unrelated DMD/BMD subjects from northern China.
Results: Seventy-three percent of the subjects were found having a deletion (66.25%) or duplication (6.25%). Exons 51-52 were detected as the most common fragment deleted in single-exon deletion, and the region of exons 45-50 was the most common exons deleted in multi-exon deletions. About 90% of DMD/BMD cases carry a small size deletion that involves 10 exons or less, 26.67% of which carry a single-exon deletion. Most of the smaller deletions resulted in an out-of-frame mutation. The most common exons deleted were determined to be between exon 48 and exon 52, with exon 50 was the model allele. Verifying single-exon deletion, one sample with a deletion of exon 53 that was initially observed from MLPA showed that there was a single base deletion that abolished the ligation site in MLPA. Confirmation of single-exon deletion is recommended to exclude single base deletion or mutation at the MLPA ligation site.
Conclusion: The frequency of deletion and duplication in northern China is similar to global ethnic populations.
|作者单位||1.Dept Med Genet, Ctr Hlth Sci, Beijing 100871, Peoples R China|
2.Univ S Alabama, Dept Med Genet, Mobile, AL 36688 USA
3.Peking Univ, Ctr Med Genet, Beijing 100871, Peoples R China
4.Chinese Acad Med Sci, Inst Med Sci, Peking Union Med Coll, Dept Med Genet, Beijing 100037, Peoples R China
5.New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USA
|Wang, Xiaozhu,Wang, Zheng,Yan, Ming,et al. Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations[J]. BEHAVIORAL AND BRAIN FUNCTIONS,2008,4(0).|
|APA||Wang, Xiaozhu,Wang, Zheng,Yan, Ming,Huang, Shangzhi,Chen, Tian-Jian,&Zhong, Nanbert.(2008).Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations.BEHAVIORAL AND BRAIN FUNCTIONS,4(0).|
|MLA||Wang, Xiaozhu,et al."Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations".BEHAVIORAL AND BRAIN FUNCTIONS 4.0(2008).|
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