Michiya Kobayashi, Ken Okamoto, Hiromichi Maeda, Department of Human Health and Medical Sciences, Kochi Medical School, Nankoku 783-8505, Japan.
World J Gastrointest Oncol. 2012 Jul 15;4(7):170-5. doi: 10.4251/wjgo.v4.i7.170.
To investigate into the diversity of UGT1A1 polymorphism across three different districts in Japan and highlight genetic differences among the population in Japan.
We enrolled 50 healthy volunteers from each of the Yamaguchi (western part of Japan), Kochi (southern part of Japan) and Akita (northern part of Japan) prefectures. Blood samples (7 mL) were collected from each participant and stored in EDTA for subsequent genotyping by fragment size analysis, direct sequencing and TaqMan assay of UGT1A128, UGT1A73/UGT1A922 and UGT1A193/UGT1A16/UGT1A127/UGT1A1*60/UGT1A7 (-57), respectively.
The only statistically significant differences in allele polymorphisms among the group examined were for UGT1A16. The Akita population showed more UGT1A16 heterozygosity (P = 0.0496).
Our study revealed no regional diversity among UGT1A1, UGT1A7 or UGT1A9 polymorphisms in Japan.
研究日本三个不同地区 UGT1A1 多态性的多样性，并强调日本人群之间的遗传差异。
我们从日本山口县（日本西部）、高知县（日本南部）和秋田县（日本北部）各招募了 50 名健康志愿者。从每位参与者采集 7mL 血液样本，并储存在 EDTA 中，用于随后通过片段大小分析、直接测序和 TaqMan 分析对 UGT1A128、UGT1A73/UGT1A922 和 UGT1A193/UGT1A16/UGT1A127/UGT1A1*60/UGT1A7（-57）进行基因分型。
在所检查的群体中，等位基因多态性方面唯一具有统计学显著差异的是 UGT1A16。秋田人群的 UGT1A16 杂合性更高（P=0.0496）。
我们的研究表明，日本人群中 UGT1A1、UGT1A7 或 UGT1A9 多态性没有地域差异。
