2002 Fiscal Year Final Research Report Summary
Analyses of SNPs on various human gene loci and their forensic applications
| Project/Area Number |
13670440
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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 | KURUME UNIVERSITY |
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Principal Investigator |
KODA Yoshiro Forensic Medicine and Human Genetics, Kurume University School of Medicine, Associate Professor, 医学部, 助教授 (90231307)
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| Co-Investigator(Kenkyū-buntansha) |
SOEJIMA Mikiko Forensic Medicine and Human Genetics, Kurume University School of Medicine, Research Associate, 医学部, 助手 (80279140)
KIMURA Hiroshi Forensic Medicine and Human Genetics, Kurume University School of Medicine, Professor, 医学部, 教授 (20112039)
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| Project Period (FY) |
2001 – 2002
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| Keywords | KEL / α(1, 4)glactosyltransferase gene / PON1 / BRCA1 / SNP / linkage disequilibrium (LD) / FUT2 |
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| Research Abstract |
We reported the null mutations for P blood group and KEL blood group. We also reported that human phosphoglucomutase 3 is identical to N-acetylglucosamine-phosphate mutase1. In addition, we examined DNA sequence variation both in a 1.3-kb promoter region 16.5 kb away from codon 192 and in a 1.7-kb region centered on the 192Q/R polymorphic site of the coding region of PON1. The number of pairs of polymorphic sites between the promoter and 1.7-kb regions that were in significant linkage disequilibrium was much higher in a Japanese population than in African and European populations. In addition, the pairs of polymorphic sites in linkage disequilibrium differed among the three populations. These results suggest that some of the population differences in association with risk for coronary heart disease can be explained by population differences in haplotype frequency of PON1 haplotypes (submitted). We found a polymorphic novel short tandem repeat located 1.8 kb downstream of the last exon of the human secretor gene (FUT2). Sequencing analysis of the STR locus revealed high microvariation both in Xhosan and Caucasian populations, whereas exhibited simple repeat structure in Japanese population. Linkage disequilibrium between the human secretor FUT2 and the FUT2/01 loci was observed. In addition, the Xhosan population has high levels of haplotype diversity and share haplotypes both from Caucasian and Japanese populations (submitted). We also examined the largest coding exon (exon 11) (about 3.4 kb) of the BRCA1 for allelic polymorphism by direct sequencing in human and chimpanzee populations. The results suggested that a kind of selection, population structure and/or population bottleneck might be responsible for the generation of the BRCA1 polymorphism.
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