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- Title
Comparative study of the haplotype structure and linkage disequilibrium of chromosome 1p36.2 region in the Korean and Japanese populations.
- Authors
Akesaka, Tamao; Lee, Seong-Gene; Ohashi, Jun; Bannai, Makoto; Tsuchiya, Naoyuki; Yoon, Yongsook; Tokunaga, Katsushi; Song, Kyuyoung
- Abstract
The patterns of linkage disequilibrium (LD) in the human genome provide important information for disease gene mapping. LDs may vary depending on chromosomal regions and populations. We have compared LD and haplotypes defined by SNPs in the chromosome 1p36.2 region of the Korean and Japanese populations. Fifty-eight SNPs in about 418 kb ranging from tumor necrosis factor receptor 2 (TNFR2:TNFRSF1B) to procollagen-lysine, 2-oxoglutarate 5-dioxygenase (PLOD) gene were examined in 96 healthy Koreans and Japanese each by direct sequencing and fluorescence correlation spectroscopy combined with the PCR-sequence specific primer method (PCR-SSP-FCS), respectively. Upon pair-wise LD analysis, a total of 25 and 16 out of 58 SNPs greater than MAF 10% were included in LD blocks, encompassing almost 81 kb and 55 kb in total, in Koreans and Japanese, respectively. Both similarities and differences were observed in LD strength and haplotype frequencies between the populations. Considerable similarities were observed in the telomeric region where a long-range block of approximately 80 kb including three genes was found to have strong LDs in both Koreans and Japanese. Significant difference in LD strength was present near theTNFR2region between the Japanese and Korean populations.
- Subjects
HUMAN gene mapping; HUMAN chromosomes; TUMOR necrosis factors; GENES; DIAGNOSTIC use of polymerase chain reaction; HUMAN genetics
- Publication
Journal of Human Genetics, 2004, Vol 49, Issue 11, p603
- ISSN
1434-5161
- Publication type
Article
- DOI
10.1007/s10038-004-0195-7