Polymorphisms of uridine-diphosphoglucuronosyltransferase 1A7 gene in Taiwan Chinese

作     者：May-Jen Huang Sien-Sing Yang Min-Shung Lin Ching-Shan Huang 

作者机构：Department of Laboratory Medicine Department of Liver Unit Department of Family Medicine School of Medicine and Health Sciences 

出 版 物：《World Journal of Gastroenterology》 (世界胃肠病学杂志（英文版）)

年 卷 期：2005年第11卷第6期

页      面：797-802页

核心收录：

学科分类：0710[理学-生物学] 1002[医学-临床医学] 07[理学] 071007[理学-遗传学] 

基　　金：Supported by a grant from the National Science Council  Taipei Taiwan  China. No. NSC 92-2314-B-242-010 

主　　题：基因多态性 尿 二磷酸甘油酸转移酶 1A7基因 中国 台湾省 SNPs 

摘      要：AIM: Single nucleotide polymorphisms (SNPs) of uridinediphosphoglucuro-nosyltransferase 1A7 (UGT1A7) gene are associated with the development of orolaryngeal cancer, hepatocellular carcinoma, and colorectal *** performed this research to establish the techniques for determining UGT1A7 gene and basic data of this gene for Taiwan ***: We collected blood samples from 112 healthy adults and 505 subjects carrying different genotypes of UGT1A1, and determined the promoter area and the entire sequence of UGT1A7 exon 1 by polymerase chain *** designed appropriate primers and restriction enzymes to detect variant UGT1A7 genotypes found in the study ***: Six SNPs at nucleotides 33, 387, 391, 392, 622,and 756 within the coding region of UGT1A7 exon 1 were found. The incidence of UGT1A7 *1/*2 (N129R131W208/K129K131W208) was predominant (35.7%) while that of UGT1A7 *3/*3 (K129K131R208/K129K131R208) was the least (2.7%). The allele frequency of UGT1A7*3, which exists in a considerable proportion of Caucasians (0.361)and Japanese (0.255), was identified only to be 0.152 in our study subjects. A novel variation at nucleotide -57 in the upstream was found, which was associated with SNPs at nucleotides 33, 387, 391, 392, and 622 in one of the variant haplotypes. The nucleotide changes at positions 387, 391, 392 and 756 were in linkage in another variant haplotype. The allele frequency of UGT1A7*3 was 0.018,0.158, 0.242, 0.433, and 0.920 in subjects carrying wild,A(TA)6TAA/A(TA)7TAA, A(TA)7TAA/A(TA)7TAA, 211G/211A,and 211A/211A variants of UGT1A1 gene, *** using natural or mutagenesis primers, we successfully detected the variations at nucleotides -57, 33, 387, and 622 with the restriction enzymes HpyCH4 Ⅳ, Taq Ⅰ, AflⅡ,and Rsa Ⅰ, ***: The results indicate that the allele frequencies of UGT1A7 gene in Taiwan Chinese are different from those in Caucasians and Japanese. Carriage of the nucleotide 211- variant UGT1A ge