Complete Sequencing of the ABO Alleles of the Common ABO Group and Rare ABO Subgroups in Koreans / 대한수혈학회지
Korean Journal of Blood Transfusion
; : 1-12, 2012.
Article
em Ko
| WPRIM
| ID: wpr-22329
Biblioteca responsável:
WPRO
ABSTRACT
BACKGROUND: Complete sequencing, except for intron 1, of the ABO allele in some populations has been reported. However, so far, one report on complete sequencing of the ABO gene in three Korean families with normal ABO phenotypes has been published. This study aimed to establish a reference database of common ABO alleles in Koreans. METHODS: Screening of common ABO alleles, including homozygote form, was performed by direct sequencing of exons 6 and 7 and by real-time PCR using displacing probes in 95 healthy donors. Genomic DNA from the common ABO group (n=8) and some ABO subgroups (n=7) was used in complete sequencing (except for intron 1) of the ABO allele. RESULTS: The sequences of B101/B101 (n=1), O01/O01 (n=1) were identical with the corresponding sequences registered in Genebank. A102 and A105 had a common point mutation, 1142 C>T in intron 4. A102 (n=3/11) and O02 (n=3/3), selected by sequencing of exons 6 and 7, were reclassified into A105 and O65 by whole genomic sequencing, respectively. Analytic results for ABO subgroups were as follows: B3, B101/O01 (n=3) and B101/O02 (n=1); A1B3, A102/B101 (n=1) and A105/B101 (n=1); Ax, A102/O01 (n=1). CONCLUSION: We established a reference database of common ABO alleles in Koreans and found that the molecular basis of introns of ABO alleles in the Korean population differs from that reported in previous studies of other populations.
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Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Fenótipo
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Doadores de Tecidos
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DNA
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Íntrons
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Programas de Rastreamento
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Éxons
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Mutação Puntual
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Alelos
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Reação em Cadeia da Polimerase em Tempo Real
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Homozigoto
Tipo de estudo:
Screening_studies
Limite:
Humans
Idioma:
Ko
Ano de publicação:
2012
Tipo de documento:
Article