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扩大新生儿查新生代谢和遗传变异的先天性错误在中国新疆,中国

Huiwen Zhang¹, Haoyue Tian¹, Wencheng Dai²

¹College of Public Health, Xinjiang Medical University, Urumqi, China.

Frontiers in genetics

|July 29, 2025

概括

新疆的新生儿查发现了新生代谢错误 (IEMs),总发病率为1/1,476. 这项研究详细介绍了疾病的谱系,患病率和遗传变异,有助于早期诊断和治疗这些严重的儿童疾病.

科学领域:

生物化学生物化学
遗传学遗传学是一个
儿科儿科儿科

背景情况:

代谢的先天性错误 (IEMs) 呈现出不同的表型,复杂的原因,以及对儿童健康的重大影响,包括神经和消化系统损伤和死亡率.
通过扩大新生儿查,对IEM的早期诊断和预症状治疗对于预防严重,永久的后果和降低死亡率至关重要.

研究的目的:

确定中国新疆地区代谢先天性错误 (IEMs) 的疾病谱,患病率和基因变异.
为改善该地区IEM的治疗和产前遗传咨询提供数据.

主要方法:

从2019年1月到2024年12月,使用双重质谱 (MS/MS) 查了107741名新生儿.
召回3947个疑似阳性病例 (96.71%的召回率) 进行进一步诊断.
下一代测序 (NGS) 和桑格测序用于确认IEM病例的遗传变异分析.

主要成果:

七十三名患者被诊断患有IEM,在新疆的整体发病率为1/1,476.
氨基酸,有机酸和脂肪酸代谢障碍的发病率分别为1995,1/8978和1/15392.
超氨酸血症,超氨酸血症和甲基氨酸酸血症是最常见的IEM. 在11个基因中发现了127种突变,包括MAT1A基因的新型突变.

结论:

该研究成功阐明了新疆IEM的疾病谱和遗传变异.
这些发现为该地区IEM提供了针对性治疗策略和产前遗传咨询的基本数据.
通过MS/MS扩展的新生儿查对IEM的早期检测和管理是有效的,减轻了严重的健康结果.

关键词:

遗传变异是一种遗传变异.代谢过程中的先天性错误.新生儿查新生儿查这是下一代测序.双联质谱质量测量技术

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