卵巢早衰或性腺发育不全患者的基因分析：一项初步研究。

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

作者信息

Massad-Costa Ana Maria, da Silva Ismael Dale Cotrim Guerreiro, Affonso Regina, Soares José Maria, Nunes Márcia Gaspar, de Lima Geraldo Rodrigues, Baracat Edmund C

机构信息

Department of Gynecology, Federal University of São Paulo, Escola Paulista de Medicina, Brazil.

出版信息

Maturitas. 2007 Aug 20;57(4):399-404. doi: 10.1016/j.maturitas.2007.04.005. Epub 2007 Jun 12.

DOI:10.1016/j.maturitas.2007.04.005

PMID: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.

摘要

目的

本研究旨在评估卵巢早衰和性腺发育不全患者中QM基因编码区及脆性X的突变情况。

方法

经当地伦理委员会批准，对100名正常排卵的女性、23名卵巢早衰（POF）患者和14名46XX核型且年龄小于40岁的性腺发育不全患者的乙二胺四乙酸抗凝血样进行QM基因编码区突变筛查。所有POF患者均为46, XX核型，血清促卵泡生成素（FSH）水平超过30 mIU/mL。此外，对所有卵巢早衰患者的样本进行脆性X分析。