Sousa Braian Lucas A, Nishi Mirian Yumie, Santos Mariza Gerdulo, Brito Vinicius Nahime, Domenice Sorahia, Mendonca Berenice B
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Disciplina de Endocrinologia, Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, São Paulo/SP, Brazil.
Clinics (Sao Paulo). 2016 Dec 1;71(12):695-698. doi: 10.6061/clinics/2016(12)03.
: Primary ovarian failure is a rare disorder, and approximately 90% of cases are of unknown etiology. The aim of this study was to search for mutations in NANOS3, a gene that was recently related to the etiology of primary ovarian failure, in a group of Brazilian women.
: We screened for NANOS3 DNA variants in 30 consecutive women who were previously diagnosed with primary ovarian failure, of unknown etiology and compared the results with those from 185 women with normal fertility. The NANOS3 gene was amplified by polymerase chain reaction using pairs of specific primers and then sequenced. The resulting sequences were compared with control sequences available in the National Center for Biotechnology and Information database.
: No mutations in NANOS3 were found in primary ovarian failure patients, but four previously described polymorphisms were identified at a similar frequency in the control and primary ovarian failure groups.
: Mutations in NANOS3 were not associated with primary ovarian failure in the present cohort.
原发性卵巢功能衰竭是一种罕见疾病，约90%的病例病因不明。本研究的目的是在一组巴西女性中寻找NANOS3基因的突变，该基因最近与原发性卵巢功能衰竭的病因有关。
我们对30例先前被诊断为病因不明的原发性卵巢功能衰竭的连续女性进行了NANOS3 DNA变异筛查，并将结果与185例生育能力正常的女性进行了比较。使用特异性引物对通过聚合酶链反应扩增NANOS3基因，然后进行测序。将所得序列与国家生物技术信息中心数据库中可用的对照序列进行比较。
在原发性卵巢功能衰竭患者中未发现NANOS3基因的突变，但在对照组和原发性卵巢功能衰竭组中以相似频率鉴定出四种先前描述的多态性。
在本队列中，NANOS3基因的突变与原发性卵巢功能衰竭无关。
