Molecular Genetic Analysis of Cis-AB with Cytosine at nucleotide position 467 / 대한수혈학회지

ABSTRACT

BACKGROUNDS The molecular genetic characteristcs of cis-AB blood group have shown that its allele had C, G, C and C at nucleotide positions (nps) 526, 703, 796 and 803, respectively. And all cis-AB analysed and reported molecular genetically in Korea and Japan had T at np 467 (leucine at amino acid position 156). We report a first case of cis-AB with C at np 467 (proline at amino acid position 156). METHODS: Genomic DNA was extracted from peripheral blood of cis-AB patient and amplified by DS1/DS2 and DS3/DS4 allele-specific primers. After PCR, we analysed nps 261, 467, 526, 646, 703, 796, and 803 by restriction digestion, autoradiography and automatic sequencing. RESULTS: PCR-RFLP with DS1/DS2 primers and restriction enzyme KpnI showed that cis-AB had an O allele. The results of genomic sequencing, autoradiography and restriction digestion showed that cis-AB allele at nps 467, 526, 646, 703, 796 and 803 had C, C, T, G, C and C, respectively. CONCLUSION: This cis-AB showed characteristic molecular genetic features at nps 526, 703, 796, and 803. And this is a first case of A(Pro) cis-AB with C at np 467.