Rett syndrome and genetic drift.
Brain Dev
; 21(3): 175-8, 1999 Apr.
Article
en En
| MEDLINE
| ID: mdl-10372903
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 account for 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 frequency of the recessive autosome mutation, or possibly a frequent polymorphism, is 22.5%.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosoma X
/
Síndrome de Rett
/
Frecuencia de los Genes
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Brain Dev
Año:
1999
Tipo del documento:
Article
País de afiliación:
Suiza
Pais de publicación:
Países Bajos