The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age.
BMC Med Genet
; 20(1): 81, 2019 05 16.
Article
en En
| MEDLINE
| ID: mdl-31096929
ABSTRACT
BACKGROUND:
The prevalence of CGG repeat expansion mutation in FMR1 gene varies among different populations. In this study, we investigated the prevalence of this mutation in women of reproductive age from northern China.METHODS:
A total of 11,891 pre-conceptional or pregnant women, including 5037 pregnant women and 7357 women with the history of spontaneous abortion or induced abortion due to delayed growth of the embryos, were recruited. The number of CGG repeats in FMR1 was measured by the TRP-PCR method. We also offered genetic counseling and prenatal diagnosis to the women carrying pre-mutation or full mutation alleles.RESULTS:
The prevalence of pre-mutation in reproductive women in northern China was 1/410, higher than that in southern China and Korea but lower than that in western countries. We also found that the prevalence of pre-mutation was relatively high (1/320) in women with abortion history.CONCLUSION:
Screening for CGG repeat expansion mutation in FMR1 should be recommended to the women with the history of spontaneous abortion or induced abortion due to delayed growth of the embryos.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Reproducción
/
Repeticiones de Trinucleótidos
/
Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil
/
Mutación
Tipo de estudio:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prevalence_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Adult
/
Female
/
Humans
/
Pregnancy
País/Región como asunto:
Asia
Idioma:
En
Revista:
BMC Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2019
Tipo del documento:
Article
País de afiliación:
China