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Defining the Jr(a-) phenotype in the Japanese population.
- Source :
-
Transfusion [Transfusion] 2014 Feb; Vol. 54 (2), pp. 412-7. Date of Electronic Publication: 2013 May 29. - Publication Year :
- 2014
-
Abstract
- Background: The Jr(a-) phenotype is rare in European and North American populations but is not so rare in Japanese and other Asian populations. Recently, two groups have established the connection between the Jr(a-) phenotype and the ATP-binding cassette, member G2 (ABCG2) gene and concluded that ABCG2-null alleles encode the Jr(a-) phenotype. In Japanese Red Cross Blood Centers, the Jr(a-) phenotype is found with a prevalence of 0.05% among blood donors, and we applied DNA-based genotyping to investigate the molecular basis of the Jr(a-) phenotype in Japan, in addition to serologic typing.<br />Study Design and Methods: Purified genomic DNA extracts of Japanese donor samples [500 Jr(a+) and 85 Jr(a-) phenotypes] were amplified using specific amplification primers for the c.376C>T mutation, which is the most common mutation in the Asian JRnull allele. Polymerase chain reaction products were examined by high-resolution melt techniques and DNA sequence analyses.<br />Results: Seventy-nine of 85 Jr(a-) samples were homozygous for the single-nucleotide polymorphism c.376C>T (Gln126Stop) change. In other samples, two novel null alleles were detected: c.2T>C and c.421C>A: c.1515delC.<br />Conclusion: In this study, more than 90% of the Japanese Jr(a-) phenotypes had c.376C>T (Gln126Stop) nucleotide change. In the other Jr(a-), a new mutation (c.2T>C) in the start codon encoding Thr instead of Met, c.1515delC encoding Ala505AlafsStop and heterozygous for c.337C/T and c.736C/T were detected. DNA-based genotyping is accurate and useful for Jr(a-) donor typing.<br /> (© 2013 American Association of Blood Banks.)
- Subjects :
- ATP Binding Cassette Transporter, Subfamily G, Member 2
Alleles
Genotype
Heterozygote
Humans
Phenotype
ATP-Binding Cassette Transporters blood
ATP-Binding Cassette Transporters genetics
Asian People genetics
Blood Donors
Neoplasm Proteins blood
Neoplasm Proteins genetics
Polymorphism, Single Nucleotide
Subjects
Details
- Language :
- English
- ISSN :
- 1537-2995
- Volume :
- 54
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Transfusion
- Publication Type :
- Academic Journal
- Accession number :
- 23713577
- Full Text :
- https://doi.org/10.1111/trf.12277