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Segregation and Sporadic Cases of Duchenne Muscular Dystrophy in the Henan Province, China

 

作者: Fu Weimin,   Guido Barbujani,  

 

期刊: Human Heredity  (Karger Available online 1990)
卷期: Volume 40, issue 3  

页码: 167-172

 

ISSN:0001-5652

 

年代: 1990

 

DOI:10.1159/000153925

 

出版商: S. Karger AG

 

关键词: Duchenne muscular dystrophy;Segregation analysis;Sporadic cases

 

数据来源: Karger

 

摘要:

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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