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尼日利亚儿童患有早期发作的综合征的外基因组测序

Ibitayo Abigail Ademuwagun^1,2, Yagoub Adam¹, Solomon Oladapo Rotimi^1,2,3

¹Covenant University Bioinformatics Research (CUBRe), Covenant University, Ota, Ogun State, Nigeria.

|November 21, 2024

概括

尼日利亚儿童早期的基因测试产生了27%的诊断率,相当于高收入国家. 这突显了基因组医学在改善发展中国家病护理方面的潜力.

科学领域:

神经遗传学神经遗传学
基因组医学是基因组医学.

背景情况:

包括尼日利亚在内的撒哈拉以南非洲地区面临着的高负担.
在低收入和中等收入国家 (LMICs) 中,基因检测往往无法用于诊断婴儿和儿童综合征.
在高收入国家 (HICs) 中,exome测序 (ES) 的诊断收益率为24%-62%,但其在LMICs中的应用性是不确定的.

研究的目的:

通过使用外基组测序 (ES) 调查尼日利亚儿童早期的遗传基础.
为了确定尼日利亚队列中早期发作的的ES诊断产量.
评估将基因组医学整合到尼日利亚管理中的可行性.

主要方法:

从拉各斯州立大学教学医院 (LASUTH) 招募22名被诊断患有早期综合征的儿童.
从静脉血液样本中分离和净化基因组DNA.
整体外体序列 (WES) 随后进行变异调用,策划和分类的计算分析.

主要成果:

在22个 (27.3%) 个体中,在6个个体中发现了致病变体.
在包括BPTF,NAA15,SCN1A,TUBA1A和CACNA1A (两个病例) 在内的基因中发现了鉴定变异.
这一尼日利亚队列的诊断产量与HICs报告的发现相似.

结论:

这项研究介绍了西非儿童早期发症的第一个外基因测序发现.
27%的遗传诊断产量证明了基因组测试在LMICs中的潜力.
将基因组医学整合到尼日利亚的治疗中,可以显著改善患者的治疗结果并降低死亡率.

关键词:

尼日利亚尼日利亚尼日利亚发育性和性脑病变.遗传变异是一种遗传变异.个性化医疗是个性化的医疗.整体外体组研究的研究.

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