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学科主题: 基础医学
题名:
Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations
作者: Wang, Xiaozhu2,3; Wang, Zheng1; Yan, Ming2,3; Huang, Shangzhi1; Chen, Tian-Jian2,5; Zhong, Nanbert2,3,4
刊名: BEHAVIORAL AND BRAIN FUNCTIONS
发表日期: 2008-04-29
DOI: 10.1186/1744-9081-4-20
卷: 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
Citation statistics:
内容类型: 期刊论文
版本: 出版稿
URI标识: http://ir.bjmu.edu.cn/handle/400002259/68004
Appears in Collections:基础医学院_北京大学医学遗传中心_期刊论文

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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

Recommended Citation:
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).
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