Population-based FMR1 carrier screening among reproductive women.

IF 4.3 3区材料科学 Q1 ENGINEERING, ELECTRICAL & ELECTRONIC ACS Applied Electronic Materials Pub Date : 2024-09-25 DOI:10.1007/s10815-024-03242-2

Quratul Ain, Ye Hyun Hwang, Daryl Yeung, Pacharee Panpaprai, Wiwat Iamurairat, Wiboon Chutimongkonkul, Objoon Trachoo, Flora Tassone, Poonnada Jiraanont

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Abstract

Purpose: Fragile X syndrome (FXS) is a neurodevelopmental disorder, caused by an CGG repeat expansion (FM, > 200 CGG) in the fragile X messenger ribonucleoprotein 1 (FMR1) gene. Female carriers of a premutation (PM; 55-200 CGG) can transmit the PM allele, which, depending on the CGG allele size, can expand to an allele in the FM range in the offspring.

Methods: Carrier screening for FMR1 PM is not available in Thailand. This study aimed to investigate the prevalence of PM carriers among Thai reproductive women at the tertiary hospital. A total of 1250 females participated in this study; ages ranged from 20 to 45 years, mean of 30 years (S.D. = 6.27).

Results: Two carriers of a premutation allele, with 32,62 and 32,69 CGG repeats respectively, were identified. This corresponds to 1 in 600 women or 0.17% of the population. Further, three women carrying a gray zone allele (45-54 CGG repeats) were identified (29,51; 29,49; and 30,47 CGG repeats) which equals to 1:400 women or 0.25% of the population. No FM case was detected.

Conclusions: This study heightens the importance of PM carrier screening of women of reproductive age, particularly for the higher risk of developing fragile X-associated primary ovarian insufficiency (FXPOI). Early identification of PM carrier status enhances family planning and fecundity alternatives and improves reproductive health outcomes leading to a better life.

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在育龄妇女中开展基于人口的 FMR1 携带者筛查。

目的：脆性 X 综合征（FXS）是一种神经发育障碍，由脆性 X 信使核糖核蛋白 1（FMR1）基因中的 CGG 重复扩增（FM，> 200 CGG）引起。预突变（PM；55-200 CGG）的女性携带者可传播 PM 等位基因，根据 CGG 等位基因的大小，PM 等位基因可在后代中扩展为 FM 范围内的等位基因：方法：泰国尚未开展 FMR1 PM 的携带者筛查。本研究旨在调查泰国三甲医院育龄妇女中 PM 携带者的患病率。共有 1250 名女性参与了这项研究；年龄从 20 岁到 45 岁不等，平均年龄为 30 岁（S.D. = 6.27）：结果：发现了两个预突变等位基因携带者，其CGG重复序列分别为32,62和32,69。这相当于每 600 名妇女中就有一名，占总人口的 0.17%。此外，还发现了三名携带灰色区域等位基因（45-54 个 CGG 重复序列）的女性（29,51、29,49 和 30,47 个 CGG 重复序列），相当于每 400 名女性中就有一名携带者，占总人口的 0.25%。未发现调频病例：本研究强调了对育龄妇女进行PM携带者筛查的重要性，尤其是对罹患脆性X相关性原发性卵巢功能不全（FXPOI）的高风险人群。及早发现原发性卵巢功能不全（PM）携带者可提高计划生育和生育力，改善生殖健康状况，从而改善生活。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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