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使用基于探头捕获技术的NGS同时对36个血液组系统进行高吞吐量基因型鉴定

Jingjing Zhang¹, Wenjing Yuan¹, Xiaozhen Hong¹

¹Blood Center of Zhejiang Province, Hangzhou, China.

|July 23, 2024

概括

一个新的下一代测序 (NGS) 平台准确识别了36个人类血型系统. 这种高通量方法改善了血液抗原的识别,提高了输血安全,克服了当前血清类型的局限性.

科学领域:

遗传学和基因组学遗传学和基因组学
免疫学免疫学免疫学
输血医学输血医学

背景情况:

人类血型抗原对于生物功能和输血兼容性至关重要.
血型鉴定的血清学方法具有局限性,无法满足日益增长的识别需求.
不相容的输血可以导致非免疫和严重的溶血反应.

研究的目的:

开发和验证一个高通量下一代测序 (NGS) 平台,用于识别36个血型系统.
提供一种全面的方法来检测血液组基因的全编码外子和侧边内子区域.
为血液抗原鉴定建立一个新的标准,超越传统的血清学技术.

主要方法:

871个捕获探头的设计,针对36个血型系统基因的外子和侧边内子序列.
开发36个血型的同步分析.
使用Illumina NovaSeq对199个血液样本进行测序,并使用CLC Genomics Workbench 21.0.0.进行分析.

主要成果:

成功建立了一个NGS技术平台,用于36个血型系统的基因定型.
在NGS数据和基于聚合酶连锁反应序列的类型化之间存在很高的相关性 (99.98%).
在13个血型系统 (ABO,Rh,MNS,Lewis,Duffy,Kidd,Diego,Gerbich,Dombrock,Globoside,JR,LAN,Landsteiner-Wiene) 中鉴定异构细胞基因型,在剩余的22个系统中确定同构细胞基因型.

结论:

开发的NGS平台提供了高精度,高吞吐量和血液组基因造型的广泛覆盖.
这项技术在血型鉴定中比传统的血清学方法有了显著的进步.
该平台增强了血液组抗原的识别,有助于改善输血安全.

关键词:

血型基因定型血型基因定型血型基因定型前子和侧面内子序列的前子和侧面内子序列.没有NGS,没有NGS.探测器捕获技术探测器捕获技术

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