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. 2016 Dec 1;71(12):695-698.
doi: 10.6061/clinics/2016(12)03.

Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure

Braian Lucas A Sousa  1 , Mirian Yumie Nishi  1 , Mariza Gerdulo Santos  1 , Vinicius Nahime Brito  1 , Sorahia Domenice  1 , Berenice B Mendonca  1
Affiliations

Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure

Braian Lucas A Sousa et al. Clinics (Sao Paulo). .

Abstract

Objectives:: 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.

Methods:: 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.

Results:: 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.

Conclusions:: Mutations in NANOS3 were not associated with primary ovarian failure in the present cohort.

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Conflict of interest statement

No potential conflict of interest was reported.

Figures

Figure 1
Figure 1
A, Electropherogram of a patient with wild type NANOS3. B, Electropherogram of a patient with the heterozygous rs897790 (c.23C>T) variant, indicated by a black arrow.
Figure 2
Figure 2
A, Electropherogram of a patient with wild type NANOS3. B, Electropherogram of a patient with the heterozygous rs2016163 (c.354A>G) variant, indicated by a black arrow.
Figure 3
Figure 3
A, Electropherogram of a patient with wild type NANOS3. B/C, Electropherogram of a patient heterozygous for the rs369192674 (c.512_514dupGAG) variant. The overlapping sequences of the two alleles, wild type and variant, are shown beginning at the black arrow.
Figure 4
Figure 4
A, Electropherogram of a patient with wild type NANOS3. B, Electropherogram of the patient with the heterozygous rs371590850 (c.134_135insGCCGGAGCCGGTGTCAGC) variant. The overlapping sequences of the two alleles, wild type and variant, are shown beginning at the black arrow.
See this image and copyright information in PMC

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