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检测人类HLA-DRB1外2中非同义单个变体的检测与脏移植拒绝相关

Mohamed M Hassan¹, Mohamed A Hussain², Sababil S Ali³

¹Department of Hematology, Faculty of Medical Laboratory Sciences, National University, Khartoum 11111, Sudan.

Medicina (Kaunas, Lithuania)

|June 28, 2023

概括

在移植拒绝病例中发现了HLA-DRB1外因子2的遗传变异. 功能分析揭示了特定的非同义变异,可能有助于移植拒绝,提供新的诊断途径.

科学领域:

免疫遗传学免疫遗传学
分子生物学分子生物学
移植科学移植科学

背景情况:

人类白细胞抗原 (HLA) 类II基因,HLA-DRB1,具有高度多态性,其外基因2对抗原结合至关重要.
了解HLA-DRB1的遗传变异对于预测和管理移植结果至关重要.
移植拒绝是受遗传因素影响的重大临床挑战.

研究的目的:

在移植受体中,识别HLA-DRB1外因子2内的功能性或标记性遗传变异.
评估已识别的变异对蛋白质功能和结构的影响,在移植接受和拒绝的背景下.
探索功能单核酸变体 (SNVs) 的潜力,以改善HLA类型和理解排斥机制.

主要方法:

一项涉及60名移植接受者的病例控制研究 (3组:拒绝,接受,控制).
桑格测序用于分析PCR放大后的HLA-DRB1外因子2区域.
生物信息学工具被用来评估非同义SNV (nsSNV) 的功能和结构后果.

主要成果:

在HLA-DRB1异构2中检测到7种SNV,其中包括两种新型变异.
三种nsSNV (K41N,Y59H,R109S) 仅在排斥组中被发现.
chr6(GRCh38.p12):32584152T>A (R109S) 变种对蛋白质结构和功能的预测影响最大.
在接受组中没有发现任何重要的遗传标记.

结论:

在HLA-DRB1外因子2中的致病变体可以影响蛋白质相互作用,功能,并可能增加疾病风险.
基于SNV的功能性HLA类型表现为所有HLA基因的全面,准确和成本效益的方法.
这种方法可以阐明新的移植拒绝原因,并改善移植管理.

关键词:

在DNA测序过程中,DNA测序在HLA类型化中.在HLA-DRB1基因中,接种器的拒绝移植器的拒绝身体健康和福祉.脏疾病脏疾病单个核酸变体 snvsvs

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