Korean J Blood Transfus.  1999 May;10(1):13-19.

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

• Kim DS
• Lee HS
• Choi SI
• Hwang PH
• Yi HK

Abstract

BACKGROUND
S: 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.

Keyword

Cis-AB; molecular genetic analysis

MeSH Terms

Alleles
Autoradiography
Cytosine*
Digestion
DNA
Humans
Japan
Korea
Molecular Biology*
Polymerase Chain Reaction
Cytosine
DNA