Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases.

Autor: Barbujani G; Dipartimento di Biologia, Università di Padova, Italy., Russo A, Danieli GA, Spiegler AW, Borkowska J, Petrusewicz IH
Jazyk: angličtina
Zdroj: Human genetics [Hum Genet] 1990 May; Vol. 84 (6), pp. 522-6.
DOI: 10.1007/BF00210802
Abstrakt: The proportion of sporadic cases of Duchenne muscular dystrophy has been estimated by classical segregation analysis in a pooled sample of 1885 sibships from 7 different countries. A significant departure from the theoretical expectations based on mutation-selection equilibrium is observed (segregation frequency = 0.439 +/- 0.017; frequency of sporadic cases = 0.229 +/- 0.026, at the maximum likelihood). The occurrence of germinal mosaicism in some of the mothers of Duchenne cases may account for this peculiar finding, although a possible role of inequality of mutation rates in the two sexes cannot be ruled out.
Databáze: MEDLINE
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