Abstract:
BACKGROUND:The high-prevalence antigen Jr(a) is carried on the ATP-binding cassette transporter ABCG2. The ABCG2 gene consists of 16 exons and its translation start codon is located on the second exon. Although the occurrence of the Jr(a-) phenotype is rare, several ABCG2 null alleles have been reported. We report a new ABCG2 null allele having a large deletion in this study. STUDY DESIGN AND METHODS:The Jr(a) status was determined by standard serologic tests and genomic DNA was isolated from whole blood. Exons 1 to 16 and the 5'-untranslated region of the ABCG2 gene were analyzed by polymerase chain reaction and sequencing. Expression of the ABCG2 protein on red blood cells was examined by immunoblotting. RESULTS:A Jr(a-) blood donor had a novel allele having a 27-kb deletion including noncoding Exon 1 and the promoter region of ABCG2, and the donor was apparently homozygous for the allele. In addition, we found three more individuals having heterozygosity for the same allele, with ABCG2*01N.01 having c.376C>T (p.Q126X), but did not find the allele having the 27-kb deletion in 3000 Jr(a+) individuals. Immunoblotting revealed that the ABCG2 protein was not found to be expressed in the individual with homozygosity for the ABCG2 27-kb deleted and in two individuals with an ABCG2 27-kb deleted/ABCG2*01N.01 genotype, which indirectly allows to conclude that the 27-kb deletion is responsible for a null ABCG2 allele. CONCLUSION:We first identified an ABCG2 null allele (provisional ISBT allele number ABCG2*01N.23) having a large deletion including the promoter region.
journal_name
Transfusionjournal_title
Transfusionauthors
Ogasawara K,Osabe T,Suzuki Y,Tsuneyama H,Isa K,Kawai M,Obara K,Ogiyama Y,Ito S,Uchikawa M,Satake M,Tadokoro Kdoi
10.1111/trf.12969subject
Has Abstractpub_date
2015-06-01 00:00:00pages
1467-71issue
6 Pt 2eissn
0041-1132issn
1537-2995journal_volume
55pub_type
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