1998 Fiscal Year Final Research Report Summary
Genetic recombination in the ABO blood group gene region
| Project/Area Number |
09670456
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Legal medicine
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| Research Institution | OSAKA MEDICAL COLLEGE |
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Principal Investigator |
SUZUKI Koichi Osaka Medical College, Legal Medicine Professor, 医学部, 教授 (60171211)
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| Co-Investigator(Kenkyū-buntansha) |
NISHIO Hajime Osaka Medical College, Legal Medicine Assistant, 医学部, 助手 (90253260)
TAMURA Akiyoshi Osaka Medical College, Legal Medicine Assistant, 医学部, 助手 (50207239)
MIYAZAKI Tokiko Osaka Medical College, Legal Medicine Assistant, 医学部, 助手 (60084919)
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| Project Period (FY) |
1997 – 1998
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| Keywords | ABO BLOOD GROUP / GENETIC RECOMBINATION / GENE CONVERSION / NUCLEOTIDE CHANGE |
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| Research Abstract |
Cloning and sequencing of the ABO genes from a family where ABO inheritance had been discrepant between the child (genotype ; A01) and the father (genocype ; 101) showed that the apparent A allele in the child was composed of the B allelic sequence in the 5' portion and the 01 allelic sequence in the 3' portion (B-01 array). The recovery of the 261G deletion in the 01 allele by the B allelic sequence allowed the authentic reading frame to be res : ored in the hybrid allele, resulting in expression of glycosyltransferase with the A1 activity.
Screening of a random Japanese population then reveal a relatively frequent occurrence (about 1%) of hybrid alleles wich various arrays. Extensive sequencing of the major four alleles, A1, B, 01, and 01v, showed allele-specific sequences in both exons and introns and nucleotide differences in the same alleles. These polymorphic sites enabled us to define che recombination breakpoints in those hybrid alleles. These breakpoints were found to locace variously within the ABO gene. A hybrid allele was found to have two breakpoints, one in incron V (01v-B) and the other in exon 7 (B-01v), probably resulting not from crossing-over but from gene conversion.
We scudied population samples from Japanese, some minor ethnic groups in South America, and German for the occurrence of ABO hybrid alleles. The frequency of the ABO hybrid alleles seems to differ in ethnic groups because we found no hybrid alleles in a German population and only a single allele in the minor ethnic groups.
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[Publications] Suzuki, K., Iwata, M., Tsuji, H., Takagi, T., Tamura, A., Ishimoto, G., Ito, S., Matsui, K.and Miyazaki, T.: "A de novorecombination in the ABO blood group gene and evidence for the occurrence of recombination products." Human Genetics. 99. 454-461 (1997)
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「研究成果報告書概要(欧文)」より
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[Publications] Tsuji, H., Iwata, M., Tamura, A., Miyazaki, T., Matsui, K., Uchida, A.and Suzuki, K.: "Sequence Diversities in the O Allele of the ABO Blood Group-Occurrence of a Novel O Allele Defind as O'." IAFS(Tokyo, 1996)Proceedings. 12-14 (1997)
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「研究成果報告書概要(欧文)」より
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[Publications] Tsuji, H., Iwata, M., Tamura, A., Takagi, T., Ito, S., Matsui, K., Miyazaki, T., Mizoi, Y., Matsumoto, H.and Suzuki, K.: "A De Novo Recombination in the ABO Gene and Frequent Occurrence of Recombination Products." Advances in Research on DNA Polymorphisms.Edited by ISFH Hakone Symposium Program Committee.330-335 (1997)
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「研究成果報告書概要(欧文)」より
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