The presence of an RHD pseudogene containing a 37 base pair duplication and a nonsense mutation in Africans with the Rh D-negative blood group phenotype

Author:

Singleton Belinda K.1,Green Carole A.1,Avent Neil D.1,Martin Peter G.1,Smart Elizabeth1,Daka Abigail1,Narter-Olaga Edwin G.1,Hawthorne Linda M.1,Daniels Geoff1

Affiliation:

1. From the Bristol Institute for Transfusion Sciences, Bristol, England; the International Blood Group Reference Laboratory, Bristol, England; the Natal Blood Transfusion Service, Pinetown, South Africa; the Blood Transfusion Service, Harare, Zimbabwe; the National Blood Transfusion Service, Accra, Ghana; and the Louisiana State University Medical Center, Shreveport, LA.

Abstract

Abstract Antigens of the Rh blood group system are encoded by 2 homologous genes, RHD and RHCE, that produce 2 red cell membrane proteins. The D-negative phenotype is considered to result, almost invariably, from homozygosity for a complete deletion ofRHD. The basis of all PCR tests for predicting fetal D phenotype from DNA obtained from amniocytes or maternal plasma is detection of the presence of RHD. These tests are used in order to ascertain the risk of hemolytic disease of the newborn. We have identified an RHD pseudogene (RHD ψ) in Rh D-negative Africans. RHDψ contains a 37 base pair (bp) insert in exon 4, which may introduce a stop codon at position 210. The insert is a sequence duplication across the boundary of intron 3 and exon 4.RHDψ contains another stop codon in exon 6. The frequency ofRHDψ in black South Africans is approximately 0.0714. Of 82 D-negative black Africans, 66% hadRHDψ, 15% had the RHD-CE-D hybrid gene associated with the VS+ V– phenotype, and only 18% completely lackedRHD. RHDψ is present in about 24% of D-negative African Americans and 17% of D-negative South Africans of mixed race. No RHD transcript could be detected in D-negative individuals with RHDψ, probably as a result of nonsense-mediated mRNA decay. Existing PCR-based methods for predicting D phenotype from DNA are not suitable for testing Africans or any population containing a substantial proportion of people with African ethnicity. Consequently, we have developed a new test that detects the 37 bp insert in exon 4 of RHDψ. (Blood. 2000; 95:12-18)

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Cited by 276 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3