Variation analysis of PUM1 gene in Chinese women with primary ovarian insufficiency.
J Assist Reprod Genet
; 35(4): 727-731, 2018 Apr.
Article
en En
| MEDLINE
| ID: mdl-29297114
ABSTRACT
Accumulating evidence has indicated that the genes involved in meiosis are highly correlated with ovarian function. Pumilio 1 (PUM1) is a RNA-binding protein which is involved in the meiotic process. It has been reported that the Pum1 knockout female mice displayed subfertility due to the decrease in primordial follicle pool. The aim of our study is to investigate whether variants of the PUM1 gene are responsible for primary ovarian insufficiency (POI) in Chinese women. We analyzed coding sequence and untranslated regions of the PUM1 gene in 196 Han Chinese women with non-syndromic POI and 192 controls. Seven novel variants were identified, but one of them was synonymous and six were intronic. Besides, seven known single-nucleotide polymorphisms (SNPs) were found, and there were no significant differences in genotype and allele frequencies of the SNPs between patients and controls. The results suggest that the variants in PUM1 may not contribute to POI in Han Chinese women.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Proteínas de Unión al ARN
/
Insuficiencia Ovárica Primaria
/
Predisposición Genética a la Enfermedad
/
Polimorfismo de Nucleótido Simple
/
Pueblo Asiatico
Tipo de estudio:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
J Assist Reprod Genet
Asunto de la revista:
GENETICA
/
MEDICINA REPRODUTIVA
Año:
2018
Tipo del documento:
Article
País de afiliación:
China