A Bw12 blood type caused by 278C>T mutation of ABO gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 482-484, 2012.
Article
em Zh
| WPRIM
| ID: wpr-232270
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To determine the serotype and genotype of a sample with ABO blood group discrepancies.</p><p><b>METHODS</b>Serotype was determined with serological method. Sequence specific primer polymerase chain reaction (SSP-PCR) was carried out based on the serotype. Sequences of exons 6 and 7 of ABO gene was analyzed by sequence-based testing (SBT).</p><p><b>RESULTS</b>Completely agglutinated A antigen, half agglutinated B antigen and weak agglutinated anti-B antibody were detected in both erythrocytes and serum, which suggested presence of a ABw serotype. An A/Bw12 genotype was revealed by B subgroup detection. Sequences of exons 6 and 7 were 278CT, 297GA and 467CT, 526CG, 657CT, 703GA, 796CA, 803GC, 930GA, respectively. The genotype fit with A102/B101 except for a nt278 C>T mutation. Blood group antigen gene mutation database (BGMUT) search has confirmed the mutant allele to be Bw12.</p><p><b>CONCLUSION</b>An A102/Bw12 genotype has been found in the Chinese population.</p>
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Base de dados:
WPRIM
Assunto principal:
Antígenos de Grupos Sanguíneos
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Sistema ABO de Grupos Sanguíneos
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Tipagem e Reações Cruzadas Sanguíneas
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Dados de Sequência Molecular
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Sequência de Bases
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Genética
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Genótipo
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Métodos
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Mutação
Limite:
Female
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Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2012
Tipo de documento:
Article
País de publicação:
CHINA
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CN
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REPUBLIC OF CHINA