RHD*weak partial 4.0 is associated with an altered RHCE*ce(48C, 105T, 733G, 744C, 1025T) allele in the Tunisian population. Issue 4 (7th June 2013)

• Record Type: Journal Article
• Authors: Ouchari, M.; Polin, H.; Romdhane, H.; Abdelkefi, S.; Houissa, B.; Chakroun, T.; Gabriel, C.; Hmida, S.; Jemni Yacoub, S.
• Is Part Of: Transfusion medicine. Volume 23:Issue 4(2013)
• Page Start: 245
• Page End: 249
• Publication Date: 2013-06-07
• Subjects: Blood -- Transfusion -- Periodicals; 615.39
• DOI: 10.1111/tme.12037
• Languages: English
• ISSNs: 0958-7578

Abstract

<abstract abstract-type="main"> <title>Summary</title> <sec id="tme12037-sec-0001" sec-type="section"> <title>Background and Objectives</title> <p>D is the most immunogenic blood group antigen. About 1% of whites carry an altered <italic>RHD</italic> allele leading to quantitative or qualitative changes in the antigen D expression. T201R and F223V encoded by 602C>G and 667T>G are specific amino acid substitutions of the weak D type 4 cluster of African origin, comprising the alleles <italic>RHD*09.01</italic>, <italic>RHD*09.02</italic>, <italic>RHD*09.03</italic>, <italic>RHD*09.04</italic> and <italic>RHD*09.05</italic>. The purpose of this study was to estimate the presence of these <italic>RHD</italic> genotypes in the Tunisian population.</p> </sec> <sec id="tme12037-sec-0002" sec-type="section"> <title>Materials and Methods</title> <p>Ethylenediaminetetraacetate blood samples from 907 D+ and 93 D− blood donors were tested for markers 602G and 667G by allele‐specific primer‐polymerase chain reaction (PCR‐ASP). Samples with positive reactions were re‐evaluated by DNA sequencing for <italic>RHD</italic> and <italic>RHCE</italic> exons 1–10 and adjacent intronic sequences.</p> </sec> <sec id="tme12037-sec-0003" sec-type="section"> <title>Results</title> <p>Among 907 D+ samples, 19 individuals were identified to harbour the <italic>RHD*weak partial 4.0</italic> allele. <italic>RHCE</italic> sequencing post‐haplotype‐specific extraction (HSE) revealed an altered <italic>RHCE*ce(48C, 105T, 733G, 744C, 1025T)</italic> in those samples. The linkage of the <italic>RHCE</italic> polymorphisms to one haplotype was proven by DNA sequencing post‐HSE.</p> </sec> <sec id="tme12037-sec-0004" sec-type="section"> <title>Conclusion</title> <p>The <italic>RHD*weak partial 4.0</italic> allele syn. <italic>RHD*09.03</italic> was estimated to occur 1 in 47 among D+ Tunisians. There was no evidence for other <italic>RHD</italic> alleles included in the weak D type 4 cluster.</p> </sec> </abstract>