FMR1 基因突变与巴西患者卵巢功能障碍的相关性。

Association between mutations in the FMR1 gene and ovarian dysfunction in Brazilian patients.

机构信息

Post Graduate Program in Gynecology and Obstetrics, Federal University of Paraná, Curitiba, Brazil.

Neurogene Laboratory of Human Cytogenetics and Molecular Genetics, Florianópolis, Brazil.

出版信息

JBRA Assist Reprod. 2022 Apr 17;26(2):237-240. doi: 10.5935/1518-0557.20210063.

DOI:10.5935/1518-0557.20210063

PMID:34542254

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9118958/

Abstract

OBJECTIVE

Our study aimed to identify mutations in the FMR1 gene in a group of Brazilian women diagnosed with primary ovarian insufficiency (POI).

METHODS

This cross-sectional study included patients aged under 40 years with confirmed POI from a convenience sample of patients seen from June 2017 to December 2018 at a University Hospital in Curitiba, Brazil. Genomic DNA was extracted and analyzed using FragilEase(tm) PCR kits (PerkinElmer), a commercially available test that enables the quantification of CGG trinucleotide repeat expansions in the FMR1 gene.

RESULTS

A total of 52 patients with an average age of 35.8±3.97 years were included. Fifty (96.1%) had normal alleles with 18 to 43 CGG repeats. The most frequent CGG-repeat sizes were 28 and 30. Two patients (3.8%) presented mutations in the FMR1 gene. The first had alleles with 19/97 CGG repeats, was categorized as a premutation carrier for FXS, and had a son with cognitive impairment. The second had alleles with 21/45 CGG repeats and was described as belonging to the gray zone.

CONCLUSIONS

In our study, 3.8% of the females with POI had mutations in the FMR1 gene. The most frequent allele sizes were 28 and 30 CGG repeats.

摘要

目的

本研究旨在鉴定一组被诊断为原发性卵巢功能不全（POI）的巴西女性的 FMR1 基因突变。

方法

本横断面研究纳入了 2017 年 6 月至 2018 年 12 月期间来自巴西库里蒂巴一家大学医院的便利样本中年龄在 40 岁以下的经证实为 POI 的患者。提取基因组 DNA 并使用 FragilEase(tm) PCR 试剂盒（PerkinElmer）进行分析，该试剂盒是一种市售的测试方法，可用于定量 FMR1 基因中的 CGG 三核苷酸重复扩增。

结果

共纳入 52 例平均年龄为 35.8±3.97 岁的患者。50 例（96.1%）具有正常等位基因，CGG 重复数为 18 至 43。最常见的 CGG 重复大小为 28 和 30。两名患者（3.8%）存在 FMR1 基因突变。第一个患者的等位基因具有 19/97 CGG 重复，被归类为 FXS 的前突变携带者，其儿子有认知障碍。第二个患者的等位基因具有 21/45 CGG 重复，被描述为处于灰色地带。