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Han B.,Qingdao Central Blood Center | Feng Z.-H.,Qingdao Central Blood Center | Guo Q.-M.,Qingdao Central Hospital | Wang M.-M.,Qingdao Central Blood Center
Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui = Journal of experimental hematology / Chinese Association of Pathophysiology | Year: 2016

OBJECTIVE: To identify the genotypes of the 2 blood samples whose serological typing were difficult by DNA sequencing analysis, and to investigate the molecular genetic basis of their genotypes.METHODS: The 2 blood samples were preliminary genotyped by PCR-SSP. The complete exon 6 and 7 in the ABO genes were amplified by PCR and the PCR products were directly sequenced and clonal sequenced in order to identify the genotypes.RESULTS: The forward typing showed that both samples were weak A, while the reverse typing showed that the samples contained anti-A1. They were preliminarily genotyped as A/O1.RESULTS: The sequencing analysis showed that the 2 samples contained the nt467C>T and nt745C>T mutation in the A allele, which resulted in an amino acid change from Proline (Pro) to Leucine (Leu) at codon 156 and also from Arginine (Arg) to Tryptophan (Trp) at codon 249.CONCLUSION: Through serology results and sequencing analysis, the 2 samples are identified as rare A307 phenotypes.

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