红细胞抗原的高通量基因分型工具。

IF 2.9 3区 医学 Q2 HEMATOLOGY
Yan Zheng, Ti-Cheng Chang
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引用次数: 0

摘要

综述目的:红细胞抗原是由基因变异引起的。红细胞基因分型已越来越多地用于辅助血清学分型,解决血清学差异,指导抗原匹配,并处理具有复杂遗传学的红细胞抗原,如Rh血型。这篇综述将讨论红细胞基因分型在病人护理中的常见应用,基因分型方法,以及自动和高通量红细胞基因分型的计算算法。最新发现:单核苷酸多态性(snp)是编码红细胞抗原的基因最常见的多态性。高通量平台专注于识别SNP和小插入和缺失(indel),如SNP阵列和高密度SNP阵列,已经开发和/或实施用于临床环境中的RBC基因分型。而SNP阵列针对常见的变异,DNA测序提供了更全面的RBC抗原信息,可以识别罕见的和新的SNP /indel和各种结构变异。解决DNA测序产生的大量数据和生物信息学挑战的计算算法已经开发出来,使自动化和高通量基因分型成为可能。摘要:随着微阵列技术、测序技术和生物信息学的发展,红细胞基因分型可能成为红细胞抗原鉴定的新金标准,并为红细胞抗原的研究提供重要见解。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
High-throughput genotyping tools for red blood cell antigens.

Purpose of review: Red blood cell (RBC) antigens arise from genetic variations. RBC genotyping has been increasingly used to assist serological typing, solve serological discrepancies, guide antigen matching, and tackle RBC antigens with complex genetics, such as Rh blood group. This review will discuss common applications of RBC genotyping in patient care, genotyping methods, and computational algorithms for automated and high-throughput RBC genotyping.

Recent findings: Single-nucleotide polymorphisms (SNPs) are the most common polymorphisms of genes encoding RBC antigens. High-throughput platforms focusing on identifying SNPs and small insertions and deletions (indels), such as SNP arrays and high-density SNP arrays, have been developed and/or implemented for RBC genotyping in clinical settings. Whereas SNP arrays target common variants, DNA sequencing provides more comprehensive information on RBC antigens and can identify rare and new SNPs/indels and various structural variations. Computational algorithms that address the tremendous quantities of data and bioinformatics challenges generated by DNA sequencing have been developed, enabling automated and high-throughput genotyping.

Summary: With the advances in microarray and sequencing technologies and bioinformatics, RBC genotyping may become a new gold standard for RBC antigen identification and can provide critical insights for research on RBC antigens.

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来源期刊
CiteScore
6.60
自引率
3.10%
发文量
78
审稿时长
6-12 weeks
期刊介绍: ​​​​​​​​Current Opinion in Hematology is an easy-to-digest bimonthly journal covering the most interesting and important advances in the field of hematology. Its hand-picked selection of editors ensure the highest quality selection of unbiased review articles on themes from nine key subject areas, including myeloid biology, Vascular biology, hematopoiesis and erythroid system and its diseases.
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