| Segregation and sporadic cases of Duchenne muscular dystrophy in the Henan Province, China. | |
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MedLine Citation:
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PMID: 2365377 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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In the Henan province, China, the segregation ratio of Duchenne muscular dystrophy, estimated through classical segregation analysis on 103 sibships, is p = 0.462, and the maximum likelihood proportion of sporadic cases is x = 0.264. These figures are in agreement with the results of segregation analysis on 1,800 families from different countries; also, the Henan population shows a slight segregation distortion and lacks a fraction of the sporadic cases predicted under mutation-selection equilibrium. Although not statistically significant, the downward departure of the estimated parameters from their expectations under the mendelian equilibrium hypothesis (p = 0.5; x = 0.333) confirms an anomalous segregation pattern for Duchenne muscular dystrophy. A possible role of germinal mosaicism in concealing a fraction of sporadic cases is discussed. |
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Authors:
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W M Fu; G Barbujani |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Human heredity Volume: 40 ISSN: 0001-5652 ISO Abbreviation: Hum. Hered. Publication Date: 1990 |
Date Detail:
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Created Date: 1990-08-13 Completed Date: 1990-08-13 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0200525 Medline TA: Hum Hered Country: SWITZERLAND |
Other Details:
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Languages: eng Pagination: 167-72 Citation Subset: IM |
Affiliation:
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Shanghai Medical University, People's Republic of China. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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China
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epidemiology Gene Frequency Genetics, Population Humans Likelihood Functions Male Muscular Dystrophies / genetics* |
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