Segregation and sporadic cases of Duchenne muscular dystrophy in the Henan Province, China

Hum Hered. 1990;40(3):167-72. doi: 10.1159/000153925.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • China / epidemiology
  • Gene Frequency
  • Genetics, Population
  • Humans
  • Likelihood Functions
  • Male
  • Muscular Dystrophies / genetics*