Sequence analysis of cisAB06, an ABO blood subtype / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 172-175, 2013.
Article
em Zh
| WPRIM
| ID: wpr-237288
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate serological and genetic characteristics for an individual with cisAB06, an ABO blood subtype.</p><p><b>METHODS</b>Antigens on red blood cells from the ABO blood group discordant individual were validated by monoclonal antibodies. The ABO antibodies in serum were validated by standard A, B, O cells. ABO genes were analyzed by polymerase chain reaction-sequence specific primer (PCR-SSP). Exons 6-7 of A/B genes were amplified with specific PCR, and the products were directly sequenced.</p><p><b>RESULTS</b>Both A and B antigens were detected on red blood cells from the proband. There was also anti-A antibody in the serum. The result of PCR-SSP has suggested a B/O02 phenotype. Direct sequencing revealed that the gene was cisAB06. Compared with B101 allele, the cisAB06 allele featured a single nucleotide change (G>C) at position 526 which resulted in an amino acid substitution (G176R).</p><p><b>CONCLUSION</b>G>C at nt526 of B allele can produce a cisAB06 allele. The serological phenotype of the specimen is therefore type AB.</p>
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Índice:
WPRIM
Assunto principal:
Sistema ABO de Grupos Sanguíneos
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Dados de Sequência Molecular
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Sequência de Bases
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Análise de Sequência de DNA
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Alelos
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Alergia e Imunologia
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Genética
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Mutação
Limite:
Adult
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Female
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Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2013
Tipo de documento:
Article