caa a22 4500 467983399 CHVBK 20180323112524.0 cr unu---uuuuu 170328e19900501xx s 000 0 eng 10.1007/BF00210802 doi (NATIONALLICENCE)springer-10.1007/BF00210802 Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases [Elektronische Daten] [G. Barbujani, A. Russo, G. Danieli, A. Spiegler, J. Borkowska, I. Petrusewicz] Summary: 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. Springer-Verlag, 1990 Barbujani G. Dipartimento di Biologia, Università di Padova, Via Trieste, 75, I-35121, Padova, Italy aut Russo A. Dipartimento di Biologia, Università di Padova, Via Trieste, 75, I-35121, Padova, Italy aut Danieli G. Dipartimento di Biologia, Università di Padova, Via Trieste, 75, I-35121, Padova, Italy aut Spiegler A. Abteilung Medizinische Genetik, Medizinische Akademie, DDR-5082, Erfurt, German Democratic Republic aut Borkowska J. Akademia Medyczna, Klinika Neurologiczna, Warszawa, Poland aut Petrusewicz I. Akademia Medyczna, Klinika Neurologiczna, Warszawa, Poland aut Human Genetics Springer-Verlag 84/6(1990-05-01), 522-526 0340-6717 84:6<522 1990 84 439 https://doi.org/10.1007/BF00210802 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00210802 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Barbujani G. Dipartimento di Biologia, Università di Padova, Via Trieste, 75, I-35121, Padova, Italy aut NATIONALLICENCE 700 1- Russo A. Dipartimento di Biologia, Università di Padova, Via Trieste, 75, I-35121, Padova, Italy aut NATIONALLICENCE 700 1- Danieli G. Dipartimento di Biologia, Università di Padova, Via Trieste, 75, I-35121, Padova, Italy aut NATIONALLICENCE 700 1- Spiegler A. Abteilung Medizinische Genetik, Medizinische Akademie, DDR-5082, Erfurt, German Democratic Republic aut NATIONALLICENCE 700 1- Borkowska J. Akademia Medyczna, Klinika Neurologiczna, Warszawa, Poland aut NATIONALLICENCE 700 1- Petrusewicz I. Akademia Medyczna, Klinika Neurologiczna, Warszawa, Poland aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/6(1990-05-01), 522-526 0340-6717 84:6<522 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer