Document Detail

Polymorphism of the D4Z4 locus associated with facioscapulohumeral muscular dystrophy 1A in Shanghai population.
MedLine Citation:
PMID:  16086272     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To investigate the D4Z4 repeats on chromosome 4q35 in normal individuals in Shanghai and analysis the polymorphism of the D4Z4 locus. METHODS: The length of D4Z4 repeats on chromosome 4q35 in 191 normal individuals in Shanghai was determined by pulsed-field gel electrophoresis and Southern blotting after double digestion with Eco RI and Bln I. The number of short D4Z4 repeats was counted after partial digestion with Kpn I. RESULTS: Among 191 normal individuals in Shanghai, seventeen showed the size of D4Z4 fragments ranged from 22 to 34 kb, i.e. 8.9% of individuals had fewer numbers of D4Z4 repeats. Of these 17 individuals, sixteen showed the short D4Z4 fragment on chromosome 4q35, and one low D4Z4 fragment was correlated to 4q35--> 10q26 translocation. CONCLUSION: The frequency of individuals having fewer numbers of D4Z4 repeats on chromosome 4q35 in Shanghai population is higher than that in Caucasian population although the short D4Z4 fragment on chromosome 4q35 is associated with facioscapulohumeral muscular dystrophy. These findings suggest that other factors may also contribute to facioscapulohumeral muscular dystrophy.
Yu-zhou Zhang; Shun-chang Sun; Hua-cheng Wu; Qi-shi Fan; Yong-jian Song; Wen Yu; Marc Jeanpierre; J Andoni Urtizberea
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics     Volume:  22     ISSN:  1003-9406     ISO Abbreviation:  Zhonghua Yi Xue Yi Chuan Xue Za Zhi     Publication Date:  2005 Aug 
Date Detail:
Created Date:  2005-08-08     Completed Date:  2009-03-19     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9425197     Medline TA:  Zhonghua Yi Xue Yi Chuan Xue Za Zhi     Country:  China    
Other Details:
Languages:  eng     Pagination:  380-2     Citation Subset:  IM    
Ruijin Hospital, Shanghai Second Medical University, Shanghai, 200025 PR China.
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MeSH Terms
Asian Continental Ancestry Group / genetics
Blotting, Southern
Chromosomes, Human, Pair 4 / genetics
Electrophoresis, Gel, Pulsed-Field
Linkage (Genetics)
Muscular Dystrophy, Facioscapulohumeral / ethnology,  genetics*
Polymorphism, Genetic*
Tandem Repeat Sequences / genetics*

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