SC*994C>T causes the Scnull phenotype in Pacific Islanders and successful transfusion of Sc3+ blood to a patient with anti-Sc3  

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Immunohematology

American National Red Cross

Subject: Medical Laboratory Technology

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ISSN: 0894-203X
eISSN: 1930-3955

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VOLUME 29 , ISSUE 2 (June 2013) > List of articles

SC*994C>T causes the Scnull phenotype in Pacific Islanders and successful transfusion of Sc3+ blood to a patient with anti-Sc3  

Marion E. Reid / Kim Hue-Roye / Randall W. Velliquette / Kathleen Larimore / Sue Moscarelli / Nicolas Ohswaldt / Christine Lomas-Francis

Keywords : Scianna, blood groups, Micronesians, Pacific Islanders, blood group antigen, ERMAP

Citation Information : Immunohematology. Volume 29, Issue 2, Pages 69-72, DOI: https://doi.org/10.21307/immunohematology-2019-127

License : (Transfer of Copyright)

Published Online: 01-December-2019

ARTICLE

ABSTRACT

Antigens in the SC blood group system are expressed by the human erythrocyte membrane-associated protein (ERMAP). Two molecular bases have been reported for the Scnull phenotype: SC*307del2 and SC*994C>T. We report our investigation of the molecular background of five Scnull individuals from the Pacific Islands and describe the successful transfusion of Sc3+ blood to a patient with anti-Sc3 in her plasma. SC (ERMAP) exons 2, 3, and 12 and their flanking intronic regions were analyzed. The SC*994C>T change introduces a restriction enzyme cleavage site for Tsp45I, and polymerase chain reaction (PCR) products from exon 12 were subjected to this PCR–restriction fragment length polymorphism (RFLP) assay. The five samples had the variant SC*994T/T. One sample, from a first cousin of one Marshallese proband, was heterozygous for SC*1514C/T (in the 3′ untranslated region); the other four samples were SC*1514C/C (consensus sequence). Samples from white donors (n = 100) and African American donors (n = 99) were tested using the Tsp45I PCR-RFLP assay; all gave a banding pattern that was consistent with the SC*994C/C consensus sequence. In all five samples, our analyses showed homozygosity for the nonsense nucleotide change SC*994C>T in an allele carrying the nucleotide associated with Sc1. Further investigation determined that one of the probands reported previously with the SC*994C>T change was from the Marshall Islands (which form part of the Micronesian Pacific Islands) and the other was from an unspecified location within the large collection of Pacific Islands. Taken together, the five known probands with the SC*994C>T silencing nucleotide change were from the Pacific Islands.

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