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Updated: Jun 9, 2025

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在泰国脆弱的X先变查的流行程度和影响

Areerat Hnoonual^1,2, Sunita Kaewfai³, Chanin Limwongse^4,5

¹Division of Molecular Pathology, Department of Pathology, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand.

Scientific reports

|November 1, 2024

概括

在泰国进行的脆弱X前变异查发现,在女性献血者中,FMR1前变异等位基因的流行率很低,在两性中均有中间等位基因. 这些发现支持探索国家查计划,以减少脆弱的X相关疾病.

科学领域:

遗传学遗传学是一个
神经学神经学
公共卫生公共卫生

背景情况:

脆弱的X前基因突变 (FMR1) 是一个全球性的健康问题.
脆弱X综合征 (FXS) 的发生率可以通过载体查来减少.
了解不同人群中的FMR1前基因突变流行率至关重要.

研究的目的:

确定泰国人口中FMR1前变异等位基因的流行率.
评估泰国国家脆弱X载体查计划的可行性.

主要方法:

对369名女性献血者进行FMR1 CGG重复扩张的查.
查449名男性的震/缺氧 (对SCA1,2,3负) 对于FMR1 CGG重复扩张.

主要成果:

在女性献血者中发现FMR1前变异等位基因的0.27%流行率.
在1.08%的女性和0.67%的男性中发现了中间的FMR1等位基因.
在男性队列中没有检测到任何前变异或完全突变.

结论:

这项研究提供了泰国FMR1前变异查的初步证据.
研究结果表明,需要对国家脆弱X载体查计划进行更广泛的讨论.
实施这样一个计划可以帮助减少泰国脆弱的X相关疾病的负担.

关键词:

FMR1 FMR1 的使用情况.运营商查检查运营商查检查脆弱的X综合征是什么?一个中间的等位基因预变异是一种前变异.在泰国,泰国语是泰国语.

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