Defining the Jr(a-) phenotype in the Japanese population.
Transfusion
; 54(2): 412-7, 2014 Feb.
Article
em En
| MEDLINE
| ID: mdl-23713577
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. STUDY DESIGN ANDMETHODS:
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.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.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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doadores de Sangue
/
Transportadores de Cassetes de Ligação de ATP
/
Polimorfismo de Nucleotídeo Único
/
Povo Asiático
/
Proteínas de Neoplasias
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
Idioma:
En
Revista:
Transfusion
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
Japão