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Titolo:
Rett syndrome and genetic drift
Autore:
Buhler, EM; Malik, NJ; Alkan, M;
Indirizzi:
Univ Basel, Childrens Hosp, Dept Med Genet, Basel, Switzerland Univ BaselBasel Switzerland s Hosp, Dept Med Genet, Basel, Switzerland Univ Bern, Inst Pathol, Dept Cytogenet, Bern, Switzerland Univ Bern BernSwitzerland st Pathol, Dept Cytogenet, Bern, Switzerland
Titolo Testata:
BRAIN & DEVELOPMENT
fascicolo: 3, volume: 21, anno: 1999,
pagine: 175 - 178
SICI:
0387-7604(199904)21:3<175:RSAGD>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Keywords:
gene frequency; genetic drift; inbreeding; metabolic interference; Rett syndrome;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
10
Recensione:
Indirizzi per estratti:
Indirizzo: Buhler, EM Univ Basel, Childrens Hosp, Dept Med Genet, Basel, Switzerland Univ Basel Basel Switzerland t Med Genet, Basel, Switzerland
Citazione:
E.M. Buhler et al., "Rett syndrome and genetic drift", BRAIN DEVEL, 21(3), 1999, pp. 175-178

Abstract

An X chromosome gene is assumed to be responsible for the cause of Rett syndrome (RS). However, new genealogical observations suggest involvement of autosomal recessive gene(s) as well, at least in familial cases, To accountfor these and other recent observations, the theoretical model presented in 1990 by the authors of this paper is applied to the calculation of gene frequencies. Observed frequencies of sporadic and familial cases of RS are used, taking into account genetic drift in inbreeded areas. Moreover, an attempt is made to use the proportion of RS variants in familial and sporadic cases for the explanation of so called 'formes frustes', and as evidence for the existence of female as well as male carriers. The estimated frequencyof the recessive autosome mutation, or possibly a frequent polymorphism, is 22.5%. (C) 1999 Elsevier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/01/20 alle ore 07:22:45