大中东群体中生物丁酶 (BTD) 基因缺陷突变的基因和结构研究:分子动力学研究的见解

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Faisal E Ibrahim^1,2,3, BalaSubramani Gattu Linga^1,2, Muthanna Samara⁴

¹Department of Research, Women's Wellness and Research Center, Hamad Medical Corporation (HMC), P.O. Box 3050, Doha 0974, Qatar.

|September 27, 2025

概括

在卡塔尔,生物酶缺乏 (BD) 携带者频率很高,每20个人中就有1人携带病原性变体. 通过基因组新生儿查进行早期检测对于及时治疗这种可治疗的代谢障碍至关重要.

科学领域:

遗传学是一个遗传学.
代谢障碍代谢障碍代谢障碍
生物信息学是一种生物信息学.

背景情况:

生物酶缺乏症 (BD) 是卡塔尔和阿拉伯世界普遍存在的自体逆性代谢障碍.
早期发现和治疗BD对于预防严重的健康结果至关重要.
了解遗传变异对于有效的查和管理策略至关重要.

研究的目的:

在健康的卡塔尔人群中调查生物丁酶缺乏 (BD) 相关遗传变异的载体频率.
使用生物信息学工具对已识别的变异进行分类,并与全球数据进行比较.
通过分子动力学模拟来评估变体的结构和功能影响.

主要方法:

分析了来自卡塔尔基因组计划 (QGP) 的14669名参与者的全基因组测序数据.
在卡塔尔队列中对723个已知的BD相关单核酸多态 (SNP) 和结构变异 (SV) 的选.
在基病原性评估和分子动力学 (MD) 模拟以评估对BTD酶的变异效应.

主要成果:

确定了80种SNP和3种SV,其中21种变体 (19种SNP,2种SV) 被归类为致病性或可能致病性.
对于卡塔尔的BD相关变体,确定了1:20的载体频率,主要是由于rs13078881 (D444H).
模拟MD显示显著的形状变化和改变稳定性的几个致病变体,包括D444H.

结论:

致病性BTD变异的高载体频率需要整合到卡塔尔的国家基因组新生儿查计划 (gNBS).
通过gNBS进行早期检测可以增强生物酶缺乏症的治疗策略.
关于D444H的MD发现提供了对较温和的临床表型和个性化治疗方法的见解.

关键词:

卡塔尔基因组计划生物酶缺乏症生物酶缺乏症基因型表型相关性相关性分子动力学分子动力学蛋白质的稳定性蛋白质的稳定性一个核酸的多态性.

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