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Molecular structures identified in serologically D – samples of an admixed population
Author(s) -
Trucco Boggione Carolina,
Luján Brajovich Melina E.,
Tarragó Marcel,
Mattaloni Stella M.,
Biondi Claudia S.,
MuñizDíaz Eduardo,
Nogués Núria,
Cotorruelo Carlos M.
Publication year - 2014
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/trf.12691
Subject(s) - population , biology , chemistry , medicine , environmental health
Background The D – phenotype is mainly caused by the complete deletion of the RHD gene in C aucasians. However, a plethora of allelic variants have been described among D – individuals from different ethnic groups. Study Design and Methods A cohort of 1314 routine serologically D – samples from white A rgentineans was studied by molecular methods. Results Among the 1314 D – samples, 2.1% showed RHD ‐ specific amplifications. One hybrid R hesus box was detected in all D –/ RHD + samples, suggesting a hemizygous status. The RHD Ψ was found in 0.7% of rr samples while DEL and null variants were detected in 16.7% of the D – samples expressing C and/or E antigens. The variants associated with the C antigen were seven RHD ‐ CE ‐ D s , two RHD (1‐2)‐ CE (2‐9)‐ D (10) , two previously unreported RHD (329 T > C )‐ CE (3‐9)‐ D null alleles, one RHD ( M 295I) , and one new RHCE (1‐2)‐ RHD (3 361del11 ‐10) null allele whereas those associated with the E antigen were five RHD (46 T > C ) and one novel RHD (581ins G ) null allele responsible for a premature stop codon. Conclusions The prevalence of D –/ RHD + samples is higher than that observed in E uropeans. More than 50% of the RHD alleles found were represented by RHD ψ and RHD ‐ CE ‐ D s showing the A frican contribution to the genetic pool of the admixed population analyzed. Interestingly, three new alleles were found, two of them being hybrid structures between previously described RHD variants recombined with RHCE sequences. The knowledge of the RHD allele repertoire in our population allowed the implementation of reliable typing and transfusion strategies for a better management of patients and pregnant women.