中国汉族人群UGT1A1基因非翻译区序列分析  

Sequence Analysis of the UGT1A1 Gene Untranslated Region in Chinese Han Population

作　　者：孙顺昌[1] 陈群蓉[2] 陈曦[1] 彭运生[1] 

机构地区：[1]深圳市宝安区人民医院中心实验室,广东深圳518101 [2]深圳市宝安区人民医院输血科,广东深圳518101

出　　处：《中国实验血液学杂志》2015年第2期522-525,共4页Journal of Experimental Hematology

摘　　要：目的:对中国汉族人群尿苷二磷酸葡糖醛酸基转移酶1A1(uridine diphosphate glucuronosyltransferase 1A1,UGT1A1)基因的5'和3'-非翻译区序列进行分析,寻找非翻译区的多态性变异。方法:收集220例健康汉族个体的外周血,并抽提基因组DNA,通过聚合酶链反应扩增UGT1A1基因的5'和3'-非翻译区,通过测序确定DNA序列。结果:在中国汉族人群中UGT1A1基因的5'非翻译区存在2个多态性位点:-64(G/C)和TATAA盒区A(TA)6TAA/A(TA)7TAA;-64位G频率为98.4%,C频率为1.6%。TATAA盒中A(TA)6TAA频率为93.4%,A(TA)7TAA频率为6.6%。3'非翻译区也存在2个多态性位点:1813C/T和1941C/G,所有个体在1813和1941位点均呈纯合性,且1813C和1941C呈遗传共分离(单倍型频率为73.6%),1813T和1941G(单倍型频率为26.4%)呈遗传共分离。结论:中国汉族人群UG T1A1基因的3'-非翻译区1813和1941纯合多态性位点呈遗传共分离可能是基因组自然选择的结果,其机制有待进一步研究。Objective： To analyze the 5＇ and 3＇ - untranslated region sequences of the UGT1 A1 gene in Chinese Han population and to find polymorphic variants within the untranslated region. Methods：Genomic DNA was extracted from peripheral leukocytes in 220 healthy Han individuals. The 5＇ and 3＇ - untranslated region sequences of the UGT1A1 gcne were amplified by polymerase chain reaction, and followed by DNA sequencing. Results： Two polymorphic loci were identified in the 5＇-untranslated region of the UGT1AI gene with - 64 （ G/C ） and A （TA） 6 TAA/A （ TA ） 7 TAA in TATAA box region among Chinese Han population. Genotype frequencies were 98.4% （G） and 1.6% （C） in -64 locus of the UGT1A1 gene among the 220 individuals. The allele frequency of A（TA） 6TAA and A （TA）7TAA within the promoter region was found to be 93.4% and 6.6%, respectively. Two polymorphic loci of 1813 （C/T） and 1941 （C/G） were detected in the 3 ＇-untranslated region of the UGT1A1 gene, they showed a homozygous state at two loci with cosegregation pattern at 1813 and 1941 locus. The haplotype frequencies were 73.6% （CC/1813 ＋ CC/1941 ） and 26.4% （TT/1813 ＋ GG/1941 ） for 1813 and 1941 loci in the UGTIA1 gene. Conclution：Cosegregation pattern, at 1813 and 1941 locus with homozygous state in the 3＇-untranslated region of the UGTIA1 gene may be selected from the human genome among Chinese Han population. More studies should be focused on the mechanism of homozygous cosegregation.

关 键 词：中国汉族人群 UGT1A1基因 非翻译区 

分 类 号：Q75[生物学—分子生物学]