The Significance of RHD Genotyping and Characteristic Analysis in Chinese RhD Variant Individuals

BackgroundRhD is the most important and complex blood group system because of its highly polymorphic and immunogenic nature. RhD variants can induce immune response by allogeneic transfusion, organ transplantation, and fetal immunity. The transfusion strategies are different for RhD variants formed...

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Autores principales:	Yanling Ying, Jingjing Zhang, Xiaozhen Hong, Xianguo Xu, Ji He, Faming Zhu
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	RhD variant RHD allele diversity genotype molecular mechanism bioinformatics Immunologic diseases. Allergy RC581-607
Acceso en línea:	https://doaj.org/article/e164166ca46046ba919891b2066db01e
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spelling	oai:doaj.org-article:e164166ca46046ba919891b2066db01e2021-11-12T06:56:41ZThe Significance of RHD Genotyping and Characteristic Analysis in Chinese RhD Variant Individuals1664-322410.3389/fimmu.2021.755661https://doaj.org/article/e164166ca46046ba919891b2066db01e2021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fimmu.2021.755661/fullhttps://doaj.org/toc/1664-3224BackgroundRhD is the most important and complex blood group system because of its highly polymorphic and immunogenic nature. RhD variants can induce immune response by allogeneic transfusion, organ transplantation, and fetal immunity. The transfusion strategies are different for RhD variants formed by various alleles. Therefore, extensive investigation of the molecular mechanism underlying RhD variants is critical for preventing immune-related blood transfusion reactions and fetal immunity.MethodsRhD variants were collected from donors and patients in Zhejiang Province, China. The phenotypes were classified using the serologic method. The full coding regions of RHD gene were analyzed using the PCR-SBT method. The multiplex ligation-dependent probe amplification (MLPA) assay was used to analyze the genotype and gene copy number. SWISS-MODLE and PyMOL software were used to analyze 3D structures of RhD caused by the variant alleles. The effect of non-synonymous substitutions was predicted using Polymorphism Phenotyping algorithm (PolyPhen-2), Sorting Intolerant From Tolerant (SIFT), and Protein Variation Effect Analyzer (PROVEAN) software.ResultsIn the collected RhD variants, 28 distinct RHD variant alleles were identified, including three novel variant alleles. RH-MLPA assay is advantageous for determining the copy number of RHD gene. 3D homology modeling predicted that protein conformation was disrupted and may explain RhD epitope differential expression. A total of 14 non-synonymous mutations were determined to be detrimental to the protein structure.DiscussionWe revealed the diversity of RHD alleles present in eastern Chinese RhD variants. The bioinformatics of these variant alleles extended our knowledge of RhD variants, which was crucial for evaluating their impact to guide transfusion support and avoid immune-related blood transfusion reactions.Yanling YingYanling YingJingjing ZhangJingjing ZhangXiaozhen HongXiaozhen HongXianguo XuXianguo XuJi HeJi HeFaming ZhuFaming ZhuFrontiers Media S.A.articleRhD variantRHD allele diversitygenotypemolecular mechanismbioinformaticsImmunologic diseases. AllergyRC581-607ENFrontiers in Immunology, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	RhD variant RHD allele diversity genotype molecular mechanism bioinformatics Immunologic diseases. Allergy RC581-607
spellingShingle	RhD variant RHD allele diversity genotype molecular mechanism bioinformatics Immunologic diseases. Allergy RC581-607 Yanling Ying Yanling Ying Jingjing Zhang Jingjing Zhang Xiaozhen Hong Xiaozhen Hong Xianguo Xu Xianguo Xu Ji He Ji He Faming Zhu Faming Zhu The Significance of RHD Genotyping and Characteristic Analysis in Chinese RhD Variant Individuals
description	BackgroundRhD is the most important and complex blood group system because of its highly polymorphic and immunogenic nature. RhD variants can induce immune response by allogeneic transfusion, organ transplantation, and fetal immunity. The transfusion strategies are different for RhD variants formed by various alleles. Therefore, extensive investigation of the molecular mechanism underlying RhD variants is critical for preventing immune-related blood transfusion reactions and fetal immunity.MethodsRhD variants were collected from donors and patients in Zhejiang Province, China. The phenotypes were classified using the serologic method. The full coding regions of RHD gene were analyzed using the PCR-SBT method. The multiplex ligation-dependent probe amplification (MLPA) assay was used to analyze the genotype and gene copy number. SWISS-MODLE and PyMOL software were used to analyze 3D structures of RhD caused by the variant alleles. The effect of non-synonymous substitutions was predicted using Polymorphism Phenotyping algorithm (PolyPhen-2), Sorting Intolerant From Tolerant (SIFT), and Protein Variation Effect Analyzer (PROVEAN) software.ResultsIn the collected RhD variants, 28 distinct RHD variant alleles were identified, including three novel variant alleles. RH-MLPA assay is advantageous for determining the copy number of RHD gene. 3D homology modeling predicted that protein conformation was disrupted and may explain RhD epitope differential expression. A total of 14 non-synonymous mutations were determined to be detrimental to the protein structure.DiscussionWe revealed the diversity of RHD alleles present in eastern Chinese RhD variants. The bioinformatics of these variant alleles extended our knowledge of RhD variants, which was crucial for evaluating their impact to guide transfusion support and avoid immune-related blood transfusion reactions.
format	article
author	Yanling Ying Yanling Ying Jingjing Zhang Jingjing Zhang Xiaozhen Hong Xiaozhen Hong Xianguo Xu Xianguo Xu Ji He Ji He Faming Zhu Faming Zhu
author_facet	Yanling Ying Yanling Ying Jingjing Zhang Jingjing Zhang Xiaozhen Hong Xiaozhen Hong Xianguo Xu Xianguo Xu Ji He Ji He Faming Zhu Faming Zhu
author_sort	Yanling Ying
title	The Significance of RHD Genotyping and Characteristic Analysis in Chinese RhD Variant Individuals
title_short	The Significance of RHD Genotyping and Characteristic Analysis in Chinese RhD Variant Individuals
title_full	The Significance of RHD Genotyping and Characteristic Analysis in Chinese RhD Variant Individuals
title_fullStr	The Significance of RHD Genotyping and Characteristic Analysis in Chinese RhD Variant Individuals
title_full_unstemmed	The Significance of RHD Genotyping and Characteristic Analysis in Chinese RhD Variant Individuals
title_sort	significance of rhd genotyping and characteristic analysis in chinese rhd variant individuals
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/e164166ca46046ba919891b2066db01e
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The Significance of RHD Genotyping and Characteristic Analysis in Chinese RhD Variant Individuals

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