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KMID : 0387719970080010085
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Korean Journal of Blood Transfusion
1997 Volume.8 No. 1 p.85 ~ p.91
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Molecular Genetic Analysis of Cis-AB Blood Group in Koreans
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한규섭/Kyou Sup Han
강성하/서울대학교 의과대학 임상병리과학교실/한림대학교 의과대학 임상병리학교실/Sung Ha Kang/Yasuo Fukumori/Hirotoshi Shibata/Yasuto Okebo
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Abstract
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Background : Cis-AB is very rare among caucasian and found relatively often among Korean and Japanese populations. The molecular genetic characteristics of Japanese cia-AB were reported recently. All the Japanese cia-AB analyzed so far had identical polymorphisms. This work was performed to disclose the genetic polymorphisms in Korean cis-AB individuals.
Methods : DNA was extracted from 8 cia-AB Koreans A and O transferase genes were amplified with GA01N/GA14 allele-specific primer set, and B and cis-AB genes were amplified with GA01N/GA13 allele-specific primer set. Restriction enzymes including BstPI, KpnI, BssHII, BsaHI, HapII, AluI, and MvaI were used for PCR-RFLP to find out the coexistence of 0 gene and to determine the nucleotides at nps 467, 526, 703, and 796. Exon 7 was divided into 2 regions and amplified to perform PCR-SSCP
Results : All of the Korean cia-AB analyzed had identical genetic polymorphisms to those reported on Japanese cia-AB. PCR-RFLP with GA01N/GAl3 showed that all cia-AB samples had the allele with A-specific nucleotides at nps 526,703 and 796, and B-specific nucleotides at np 803. Other genetic polymorphisms showed that all of those with cia-AB allele had T at np 467(leucine at amino acid position 156).
Conclusion : Genetics polymorphisms reported on 29 Japanese cia-AB so far and 8 Koreans cia-AB analyzed in this study had identical mutations. This may imply that the cia-AB often found in Korea and Japan have single origin. It is plausible that a group of Korean people immigrated from the southwest part of Korea to the western part of Japan through a sea route in the past.
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KEYWORD
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Molecular genetic polymorphism, Cia-AB, Korean, PCR-RFLP, PCR-SSCP,
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