New Variant of O02 Allele Found in the Family of Cis-AB: Report of Three Cases in a Family / 대한수혈학회지
Korean Journal of Blood Transfusion
;
: 148-153, 2010.
Artigo
em Coreano
| WPRIM
| ID: wpr-165959
ABSTRACT
In preoperative ABO typing, we observed an ABO discrepancy in a 61 year-old patient with A2B3 phenotype. Standard serologic tests for the ABO blood group phenotypes and ABO gene direct sequencing for the exons 6 and 7 were done as part of the patient's family study. We found that the patient's genotype was identical to cis-AB01/O02, except for a 703 G>A polymorphism at exon 7. An allele-separation by cloning and subsequent sequencing of the heterozygote was carried out. We identified a novel O02 variant allele characterized by a 703 G>A polymorphism in the patient and in her 2 daughters.
Texto completo:
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Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Testes Sorológicos
/
Núcleo Familiar
/
Éxons
/
Células Clonais
/
Clonagem de Organismos
/
Alelos
/
Genótipo
/
Heterozigoto
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
Idioma:
Coreano
Revista:
Korean Journal of Blood Transfusion
Ano de publicação:
2010
Tipo de documento:
Artigo
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