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学科主题基础医学
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
2008-04-29
DOI10.1186/1744-9081-4-20
4期:0
收录类别SCI
文章类型Article
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
英文摘要

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.

语种英语
WOS记录号WOS:000256038900001
引用统计
被引频次:23[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
版本出版稿
条目标识符http://ir.bjmu.edu.cn/handle/400002259/68004
专题基础医学院_北京大学医学遗传中心
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
推荐引用方式
GB/T 7714
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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