鉴定出一种新型 RHCE*Ce (829G > A) 等位基因,该等位基因与缺乏 C 和 e 抗原表达有关。

IF 1.5 4区 医学 Q3 HEMATOLOGY Transfusion Medicine Pub Date : 2024-10-01 Epub Date: 2024-08-01 DOI:10.1111/tme.13072
Ci Xuan, Fan Xinxin, Lv Piao, Kong Wenbin, Liang Yingyin, Liu Chixiang, Zhou Huayou
{"title":"鉴定出一种新型 RHCE*Ce (829G > A) 等位基因,该等位基因与缺乏 C 和 e 抗原表达有关。","authors":"Ci Xuan, Fan Xinxin, Lv Piao, Kong Wenbin, Liang Yingyin, Liu Chixiang, Zhou Huayou","doi":"10.1111/tme.13072","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>The Rh blood group antigens are encoded by the RHD and RHCE genes, which possess a remarkable degree of polymorphism owing to their high homologous structures. These variants of the RH genes can lead to absence or weak expression of antigens.</p><p><strong>Methods: </strong>Analysis of RHCE genotyping by Polymerase Chain Reaction (PCR-SSP) method specific to detect c.48G, c.48C, 109 bp insertion of IVS2, c.201A and c.307C and RhCE phenotyping, were conducted in 316 Chinese patients in previous study. One patient with discrepancy typing result was collected for further RhCE serologic typing using microcolumn gel method and tube method in saline using monoclonal antibodies. PacBio sequencing was performed for RHCE, RHD and RHAG complete sequence analysis. 3D molecular models of the protein with the wild-type and mutant residue were generated using the DynaMut web server. The effect of the mutation on the protein function was predicted by PolyPhen-2 software.</p><p><strong>Results: </strong>One male patient of Chinese Han was detected with RHCE*C allele showed by PCR-SSP method but ccEE phenotype. Further PacBio sequencing identified one normal RHCE*cE allele and one RHCE*Ce allele carried a novel c.829G > A (p.Gly277Arg) variant, which the encoded amino acid located in the ninth transmembrane segment of RhCE protein. Crystallisation analysis of 3D molecular models revealed that the substitution at Arg277 leads to the formation of additional hydrogen bonds, including weak hydrogen bonds between multiple atoms. It also results in hydrophobic ion interactions between Arg277 and Ala244. This mutation is predicted to have a damaging effect on protein function.</p><p><strong>Conclusion: </strong>One novel RHCE*Ce allele with c.829G > A (p.Gly277Arg) variant was identified to resulting in the absence or weak expression of C and e antigens.</p>","PeriodicalId":23306,"journal":{"name":"Transfusion Medicine","volume":" ","pages":"445-449"},"PeriodicalIF":1.5000,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Identification of a novel RHCE*Ce (829G > A) allele associated with absence of C and e antigens expression.\",\"authors\":\"Ci Xuan, Fan Xinxin, Lv Piao, Kong Wenbin, Liang Yingyin, Liu Chixiang, Zhou Huayou\",\"doi\":\"10.1111/tme.13072\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>The Rh blood group antigens are encoded by the RHD and RHCE genes, which possess a remarkable degree of polymorphism owing to their high homologous structures. These variants of the RH genes can lead to absence or weak expression of antigens.</p><p><strong>Methods: </strong>Analysis of RHCE genotyping by Polymerase Chain Reaction (PCR-SSP) method specific to detect c.48G, c.48C, 109 bp insertion of IVS2, c.201A and c.307C and RhCE phenotyping, were conducted in 316 Chinese patients in previous study. One patient with discrepancy typing result was collected for further RhCE serologic typing using microcolumn gel method and tube method in saline using monoclonal antibodies. PacBio sequencing was performed for RHCE, RHD and RHAG complete sequence analysis. 3D molecular models of the protein with the wild-type and mutant residue were generated using the DynaMut web server. The effect of the mutation on the protein function was predicted by PolyPhen-2 software.</p><p><strong>Results: </strong>One male patient of Chinese Han was detected with RHCE*C allele showed by PCR-SSP method but ccEE phenotype. Further PacBio sequencing identified one normal RHCE*cE allele and one RHCE*Ce allele carried a novel c.829G > A (p.Gly277Arg) variant, which the encoded amino acid located in the ninth transmembrane segment of RhCE protein. Crystallisation analysis of 3D molecular models revealed that the substitution at Arg277 leads to the formation of additional hydrogen bonds, including weak hydrogen bonds between multiple atoms. It also results in hydrophobic ion interactions between Arg277 and Ala244. This mutation is predicted to have a damaging effect on protein function.</p><p><strong>Conclusion: </strong>One novel RHCE*Ce allele with c.829G > A (p.Gly277Arg) variant was identified to resulting in the absence or weak expression of C and e antigens.</p>\",\"PeriodicalId\":23306,\"journal\":{\"name\":\"Transfusion Medicine\",\"volume\":\" \",\"pages\":\"445-449\"},\"PeriodicalIF\":1.5000,\"publicationDate\":\"2024-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Transfusion Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1111/tme.13072\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/8/1 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Transfusion Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/tme.13072","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/8/1 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"HEMATOLOGY","Score":null,"Total":0}
引用次数: 0

摘要

背景:Rh血型抗原由RHD和RHCE基因编码,由于这两个基因的结构高度同源,因此具有显著的多态性。这些 RH 基因变异可导致抗原的缺失或弱表达:方法:在先前的研究中,对 316 名中国患者进行了聚合酶链式反应(PCR-SSP)方法的 RHCE 基因分型分析,以检测 c.48G、c.48C、109 bp 插入 IVS2、c.201A 和 c.307C 以及 RhCE 表型。收集了一名分型结果不一致的患者,使用单克隆抗体在生理盐水中通过微柱凝胶法和试管法进一步进行 RhCE 血清学分型。对 RHCE、RHD 和 RHAG 的完整序列进行了 PacBio 测序分析。使用 DynaMut 网络服务器生成了带有野生型和突变残基的蛋白质三维分子模型。突变对蛋白质功能的影响由 PolyPhen-2 软件预测:结果:通过 PCR-SSP 方法检测到一名中国汉族男性患者具有 RHCE*C 等位基因,但其表型为 ccEE。进一步的 PacBio 测序发现,一个正常的 RHCE*cE 等位基因和一个 RHCE*Ce 等位基因携带一个新的 c.829G > A (p.Gly277Arg)变异,该变异的编码氨基酸位于 RhCE 蛋白的第九跨膜片段。三维分子模型的结晶分析表明,Arg277 的置换导致形成额外的氢键,包括多个原子之间的弱氢键。它还导致 Arg277 和 Ala244 之间的疏水离子相互作用。这一突变预计会对蛋白质功能产生破坏性影响:结论:发现了一个具有 c.829G > A (p.Gly277Arg) 变异的新型 RHCE*Ce 等位基因,该等位基因会导致 C 抗原和 e 抗原缺失或弱表达。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Identification of a novel RHCE*Ce (829G > A) allele associated with absence of C and e antigens expression.

Background: The Rh blood group antigens are encoded by the RHD and RHCE genes, which possess a remarkable degree of polymorphism owing to their high homologous structures. These variants of the RH genes can lead to absence or weak expression of antigens.

Methods: Analysis of RHCE genotyping by Polymerase Chain Reaction (PCR-SSP) method specific to detect c.48G, c.48C, 109 bp insertion of IVS2, c.201A and c.307C and RhCE phenotyping, were conducted in 316 Chinese patients in previous study. One patient with discrepancy typing result was collected for further RhCE serologic typing using microcolumn gel method and tube method in saline using monoclonal antibodies. PacBio sequencing was performed for RHCE, RHD and RHAG complete sequence analysis. 3D molecular models of the protein with the wild-type and mutant residue were generated using the DynaMut web server. The effect of the mutation on the protein function was predicted by PolyPhen-2 software.

Results: One male patient of Chinese Han was detected with RHCE*C allele showed by PCR-SSP method but ccEE phenotype. Further PacBio sequencing identified one normal RHCE*cE allele and one RHCE*Ce allele carried a novel c.829G > A (p.Gly277Arg) variant, which the encoded amino acid located in the ninth transmembrane segment of RhCE protein. Crystallisation analysis of 3D molecular models revealed that the substitution at Arg277 leads to the formation of additional hydrogen bonds, including weak hydrogen bonds between multiple atoms. It also results in hydrophobic ion interactions between Arg277 and Ala244. This mutation is predicted to have a damaging effect on protein function.

Conclusion: One novel RHCE*Ce allele with c.829G > A (p.Gly277Arg) variant was identified to resulting in the absence or weak expression of C and e antigens.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Transfusion Medicine
Transfusion Medicine 医学-血液学
CiteScore
2.70
自引率
0.00%
发文量
96
审稿时长
6-12 weeks
期刊介绍: Transfusion Medicine publishes articles on transfusion medicine in its widest context, including blood transfusion practice (blood procurement, pharmaceutical, clinical, scientific, computing and documentary aspects), immunohaematology, immunogenetics, histocompatibility, medico-legal applications, and related molecular biology and biotechnology. In addition to original articles, which may include brief communications and case reports, the journal contains a regular educational section (based on invited reviews and state-of-the-art reports), technical section (including quality assurance and current practice guidelines), leading articles, letters to the editor, occasional historical articles and signed book reviews. Some lectures from Society meetings that are likely to be of general interest to readers of the Journal may be published at the discretion of the Editor and subject to the availability of space in the Journal.
期刊最新文献
Acute normovolemic haemodilution to reduce allogeneic red blood cell transfusion in patients undergoing coronary artery bypass grafting. An observational study. An unusual case of reagent interference in transfusion medicine workup: Pan reactive indirect antiglobulin test caused by commercial saline solution. PacBio third-generation sequencing detects a new variant, c.27delC, in exon 1 of the ABO gene resulting in a weak B phenotype. The infected blood inquiry: Impact on public perceptions of blood supply risk, safety, and donation attitudes. Resuscitation of adult shocked trauma patients using major haemorrhage protocol guided by viscoelastic haemostatic assays versus formulaic approach.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1