Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2017
[Identification of a novel ABO B(A)07 allele].
СтатьяНазвание и аннотация: Перевод в очереди
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Luo Hong, Luo Guangping, Zhang Runqing, Mo Chunyan, Liao Zhijian
Аннотация
OBJECTIVE: To explore the molecular basis for a novel B(A) phenotype.
METHODS: Genomic DNA was abstracted from peripheral blood sample from the proband. ABO genotyping were carried out with sequence specific primer PCR (PCR-SSP). Exons 6 and 7 of the ABO gene were amplified with PCR and sequenced.
RESULTS: Anti-A serum could not be adsorbed or eluted by the donor's red blood cells, and no irregular antibodies were found in the plasma. PCR-SSP showed that the ABO genotype of the donor was ABO *B/O. Sequencing results showed that one of the alleles was ABO *O02, while the other could not be defined but contained the following mutation points, 297A>G, 526C>G, 657C>T, 701C>T, 703G>A, 796C>A, 803G>C, and 930G>A. The data was accepted by the GenBank (the loading code was KM974887) and the Blood Group Antigen Mutation Database, and was confirmed to be a novel allele of B(A).
CONCLUSION: A novel allele ABO *B(A)07 with 701C>T has been identified, which may facilitate further study on blood antigen variants and typing of the blood groups.
METHODS: Genomic DNA was abstracted from peripheral blood sample from the proband. ABO genotyping were carried out with sequence specific primer PCR (PCR-SSP). Exons 6 and 7 of the ABO gene were amplified with PCR and sequenced.
RESULTS: Anti-A serum could not be adsorbed or eluted by the donor's red blood cells, and no irregular antibodies were found in the plasma. PCR-SSP showed that the ABO genotype of the donor was ABO *B/O. Sequencing results showed that one of the alleles was ABO *O02, while the other could not be defined but contained the following mutation points, 297A>G, 526C>G, 657C>T, 701C>T, 703G>A, 796C>A, 803G>C, and 930G>A. The data was accepted by the GenBank (the loading code was KM974887) and the Blood Group Antigen Mutation Database, and was confirmed to be a novel allele of B(A).
CONCLUSION: A novel allele ABO *B(A)07 with 701C>T has been identified, which may facilitate further study on blood antigen variants and typing of the blood groups.