Gene analysis in patients with premature ovarian failure or gonadal dysgenesis: a preliminary study.
Maturitas
; 57(4): 399-404, 2007 Aug 20.
Article
em En
| MEDLINE
| ID: mdl-17566674
ABSTRACT
OBJECTIVE:
The aim of this study was to evaluate the presence of mutations in the coding region of the QM gene and fragile X in patients with premature ovarian failure and gonadal dysgenesis.METHODS:
After approval by the local Ethics Committee, blood samples, in EDTA, of 100 normally ovulating women, 23 with premature ovarian failure (POF) and 14 with gonadal dysgenesis 46XX, aged less than 40 years, were screened for mutation in the QM gene coding region. All patients with POF have 46, XX karyotype and serum levels of follicle-stimulating hormone (FSH) over 30 mIU/mL. In addition, all samples from patients with premature ovarian failure underwent analysis for fragile X.RESULTS:
The QM gene located at a hotspot region (Xq28) showed five points of mutations in a patient with premature ovarian failure. Four of them were able to change the amino acid sequence of the protein. None of our patients were diagnosed as having pre or mutant X fragile syndrome.CONCLUSION:
Our study suggests that Xq28 (QM gene) may be involved in ovary failure. However, further studies are needed to confirm this hypothesis.
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Base de dados:
MEDLINE
Assunto principal:
Proteínas Ribossômicas
/
Insuficiência Ovariana Primária
/
Disgenesia Gonadal 46 XX
/
Proteínas Supressoras de Tumor
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article