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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