Gene analysis in patients with premature ovarian failure or gonadal dysgenesis: a preliminary study.
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.


CONCLUSIONS
Our study suggests that Xq28 (QM gene) may be involved in ovary failure. However, further studies are needed to confirm this hypothesis.
Massad-Costa
Ana Maria
AM
Department of Gynecology, Federal University of São Paulo, Escola Paulista de Medicina, Brazil.
da Silva
Ismael Dale Cotrim Guerreiro
ID
Affonso
Regina
R
Soares
José Maria
JM
Nunes
Márcia Gaspar
MG
de Lima
Geraldo Rodrigues
GR
Baracat
Edmund C
EC
D000328:Adult; D001483:Base Sequence; D016022:Case-Control Studies; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics; D005820:Genetic Testing; D023961:Gonadal Dysgenesis, 46,XX / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D000080882:Ribosomal Protein L10; D012269:Ribosomal Proteins / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
C000630686:RPL10 protein, human; D012269:Ribosomal Proteins; D025521:Tumor Suppressor Proteins