Human oocyte maturation arrest caused by a novel missense mutation in TUBB8.
J Int Med Res
; 46(9): 3759-3764, 2018 Sep.
Article
en En
| MEDLINE
| ID: mdl-29877102
ABSTRACT
Objective To explore the etiology of human oocyte maturation arrest in two infertile Chinese sisters. Methods Clinical examination and genetic testing of all available family members were conducted, and the findings were used to create a pedigree. Mutation screening using PCR amplification and DNA Sanger sequencing of the entire tubulin beta 8 class VIII gene ( TUBB8) including intron-exon boundaries was performed to identify mutations. Results A novel missense TUBB8 mutation (c.1054G > T, p.A352S) in the patient and her elder sister was detected and shown to be associated with oocyte maturation arrest. Conclusion Our findings expand the known mutation spectrum of TUBB8 and provide insights into the etiology of human oocyte maturation arrest.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Oocitos
/
Oogénesis
/
Tubulina (Proteína)
/
Infertilidad Femenina
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
J Int Med Res
Año:
2018
Tipo del documento:
Article
País de afiliación:
China