CAJ | 학술논문

目的揭示中国北方汉族人群岩藻糖基转移酶基因V(fucosyltransferase 5 gene,FUT5)编码区序列特征.方法对160名健康中国北方汉族人群血液样品进行研究,DNA测序分析其中30例FUT5基因编码区序列;突变基因亚克隆后测序鉴定其单倍型;聚合酶链反应-限制性片段长度法分析130名C560T(rs778970)和C484A位点的遗传多态性.结果 DNA测序共鉴定出7个单核苷酸多态性(single nucleotide polymorphism,SNPs)及2个新突变点C484A(Leu162Met)和T684C;9种碱基替换共鉴定出7种单倍型;160名样本的rs778970位点遗传多态性分析结果显示等位基因频率C为0.3031,T为0.6969;而C484A未发现其具有多态性.结论中国北方汉族人群FUT5基因编码区序列呈现出高度的变异性;rs778970位点等位基因分布具有较好多态性.
목적 게시중국북방한족인군암조당기전이매기인V(fucosyltransferase 5 gene,FUT5)편마구서렬특정.방법 대160명건강중국북방한족인군혈액양품진행연구,DNA측서분석기중30례FUT5기인편마구서렬;돌변기인아극륭후측서감정기단배형;취합매련반응-한제성편단장도법분석130명C560T(rs778970)화C484A위점적유전다태성.결과 DNA측서공감정출7개단핵감산다태성(single nucleotide polymorphism,SNPs)급2개신돌변점C484A(Leu162Met)화T684C;9충감기체환공감정출7충단배형;160명양본적rs778970위점유전다태성분석결과현시등위기인빈솔C위0.3031,T위0.6969;이C484A미발현기구유다태성.결론 중국북방한족인군FUT5기인편마구서렬정현출고도적변이성;rs778970위점등위기인분포구유교호다태성.
Objective To reveal the sequence variations of the full coding region of the human a(1,3/1,4)fucosyltransferase 5 gene (FUT5)in a Chinese Han population. Methods The whole coding region of the FUT5 gene was amplified and sequenced in a total of 30 unrelated Chinese Han individuals. The PCR products containing the nucleotide variants observed in the study were subcloned into plasmid pcDNA to determine all potential haplotypes in the investigated population. Genetic polymorphisms of C560T (rs778970) and C484A loci were further analyzed by polymerase chain reaction-restriction fragment length polymorphism(PCR-RLFP) method. Results In addition to seven previously reported base substitutions,two novel polymorphisms, namely C484A (Leu162Met) and T684C, were found in the coding region of the FUT5 gene in the 30 individuals. Seven haplotypes were identified by subcloing the variants into plasmid and subsequent DNA sequencing. The allele frequencies in the rs778970 locus in 160 Chinese Han individuals was 0.3031 for 560C and 0. 6969 for 560T, while no polymorphism was detected in the C484A locus.Conclusion The sequence of the coding region in the human FUT5 gene demonstrated high genetic diversity, and the allelic distribution of the rs778970 locus in the Chinese populations is polymorphic.