Notes on the population genetics of fragile X syndrome.
Am J Med Genet
; 43(1-2): 339-44, 1992.
Article
en En
| MEDLINE
| ID: mdl-1605208
ABSTRACT
Our analysis of fragile X-inactivation in normal and mentally retarded heterozygotes led us to conclude that a fraction of female carriers of the imprinted (fully mutated) allele is phenotypically normal as a consequence of X-inactivation. Taking this into account, we derived equilibrium equations for the fragile X [fra(X)] genotype frequencies. We also showed that small variations in the value of s (selection coefficient of affected heterozygotes) and r (imprinting rate during oogenesis) affect genotype ratios significantly.
Buscar en Google
Banco de datos:
MEDLINE
Asunto principal:
Síndrome del Cromosoma X Frágil
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Año:
1992
Tipo del documento:
Article
País de afiliación:
Brasil