CAJ | 학술논문

背景与目的单核苷酸多态性（SNPs）在蛋白编码序列中多以富集成簇的方式分布，并提示其可能有民族区域和人种之间的差异性，然而 SNPs 在黔西南汉族人群表皮生长因子前体蛋白（preproEGF）编码序列第14和16外显子中的分布状况迄今尚未见报道，本研究拟对35例黔西南汉族受试者进行研究，旨在分析 SNPs 在 preproEGF 编码序列第14和16外显子中的分布特征。方法设计合成4条引物，分别对35例汉族受试者 preproEGF 编码序列第14和16外显子区段进行 PCR 扩增和产物的 DNA 测序；检索单核苷酸多态性资料库（dbSNP）获取资料并与测序结果进行对比分析。结果35例黔西南汉族受试者中13例（37.1％）在 preproEGF 编码序列的2525 bp 位点出现 SNPs，基因型为 AG 和 GG，频率分别为69.2％和30.8％，其等位基因频率分别为 A 34.6％和 G 65.4％；27例（77.1％）在2576 bp 位点有 SNPs，基因型为 AA 和 AG，频率分别为66.7％和33.3％，等位基因频率分别为 A 83.3％和 G 16.7％。相比之下，北京汉族受试者较黔西南汉族受试者在 preproEGF 编码序列第14外显子内多了1个单核苷酸多态位点，即2619 bp 位点；欧美等其他民族不仅在 preproEGF 编码序列第14外显子内分布有 rs199935855等7个 SNPs，而且在其第16外显子内也分布有 rs149396988等6个 SNPs；黔西南汉族和北京汉族受试者在 preproEGF 编码序列的第16外显子内均未见有 SNPs 分布。结论在黔西南汉族、北京汉族和欧美等民族的 preproEGF 编码序列第14和16外显子中， SNPs 分别具有各民族、各种族的特征性分布，据此可区分不同地域的种族和人群，甚至进行个体识别。也可将这些呈特征性分布的 SNPs 视为遗传标记进而深入研究 SNPs 与疾病发生的关系。
배경여목적단핵감산다태성（SNPs）재단백편마서렬중다이부집성족적방식분포，병제시기가능유민족구역화인충지간적차이성，연이 SNPs 재검서남한족인군표피생장인자전체단백（preproEGF）편마서렬제14화16외현자중적분포상황흘금상미견보도，본연구의대35례검서남한족수시자진행연구，지재분석 SNPs 재 preproEGF 편마서렬제14화16외현자중적분포특정。방법설계합성4조인물，분별대35례한족수시자 preproEGF 편마서렬제14화16외현자구단진행 PCR 확증화산물적 DNA 측서；검색단핵감산다태성자료고（dbSNP）획취자료병여측서결과진행대비분석。결과35례검서남한족수시자중13례（37.1％）재 preproEGF 편마서렬적2525 bp 위점출현 SNPs，기인형위 AG 화 GG，빈솔분별위69.2％화30.8％，기등위기인빈솔분별위 A 34.6％화 G 65.4％；27례（77.1％）재2576 bp 위점유 SNPs，기인형위 AA 화 AG，빈솔분별위66.7％화33.3％，등위기인빈솔분별위 A 83.3％화 G 16.7％。상비지하，북경한족수시자교검서남한족수시자재 preproEGF 편마서렬제14외현자내다료1개단핵감산다태위점，즉2619 bp 위점；구미등기타민족불부재 preproEGF 편마서렬제14외현자내분포유 rs199935855등7개 SNPs，이차재기제16외현자내야분포유 rs149396988등6개 SNPs；검서남한족화북경한족수시자재 preproEGF 편마서렬적제16외현자내균미견유 SNPs 분포。결론재검서남한족、북경한족화구미등민족적 preproEGF 편마서렬제14화16외현자중， SNPs 분별구유각민족、각충족적특정성분포，거차가구분불동지역적충족화인군，심지진행개체식별。야가장저사정특정성분포적 SNPs 시위유전표기진이심입연구 SNPs 여질병발생적관계。
Background and Objective The distribution of single nucleotide polymorphisms( SNPs)in protein coding sequence is mainly in clustered integration and may varies with different nationality regions and races. However,there are few reports about the distribution of SNPs in exon 14 and 16 in the coding sequence of prepro - epidermal growth factor (preproEGF)in Han People of Qianxinan Prefecture. In this study,we conducted researches on 35 Han people of Qianxinan Prefecture to investigate the distribution features of SNPs in exon 14 and 16 in the coding sequence of preproEGF. Methods Four primers were designed and synthesized,and PCR amplification and DNA sequencing of the products were conducted on the sections of exon 14 and 16 in the coding sequence of preproEGF in 35 Han subjects;comparison was made between the sequencing results and data retrieved from dbSNP. Results Among the 35 Han subjects of Qinxinan Prefecture,13(37. 1% ) subjects had SNPs shown at 2 525 bp site in the coding sequence of preproEGF,and the genotypes were AG and GG,with frequencies of 69. 2% and 30. 8% respectively and allele frequencies of A 34. 6% and G 65. 4% respectively;27(77. 1% ) subjects had SNPs shown at 2 576 bp site,and the genotypes were AG and AG,with frequencies being 66. 7% and 33. 3%respectively and allele frequencies being A 83. 3% and G 16. 7% respectively. In comparison,Han subjects of Beijing had an extra site of SNPs in exon 14,which was 2 619 bp site;subjects of Europe,the U. S. and some other nationalities had 7 extra sites of SNPs in exon 14,such as rs199935855,and they also had 6 extra sites of SNPs in exon 16;Han subjects of Qianxinan prefecture and Beijing had no SNPs in exon 16. Conclusion Among Han people of Qianxinan prefecture and Beijing and people of Europe,the U. S. and some other nationalities,the distribution of SNPs in exon 14 and 16 in the coding sequence of preproEGF varies with different ethnic groups and races,which could be served as a reference for distinguishing different races or populations from different regions and even individual identification. The SNPs with featured distribution could be taken as genetic markers for further research of the relation between SNPs and diseases.