黔西南汉族人群表皮生长因子前体蛋白编码序列第14和16外显子中单核苷酸多态性研究

发布时间：2018-05-19 02:10

本文选题：汉族 + 贵州　；参考：《中国全科医学》2015年29期

【摘要】：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(prepro EGF)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prepro EGF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prepro EGF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(db SNP)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prepro EGF编码序列的2 525 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2 576 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prepro EGF编码序列第14外显子内多了1个单核苷酸多态位点,即2 619 bp位点;欧美等其他民族不仅在prepro EGF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prepro EGF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prepro EGF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。
[Abstract]:Background and objective single nucleotide polymorphisms (SNPs) are distributed in protein coding sequences in rich integrated clusters, suggesting that SNPs may have differences between national regions and ethnic groups. However, the distribution of SNPs in exons 14 and 16 of epidermal growth factor precursor protein (EGF) prepro EGFencoding sequence has not been reported in Southwest Guizhou Han population. The purpose of this study was to analyze the distribution of SNPs in exons 14 and 16 of prepro EGF coding sequence. Methods four primers were designed and synthesized to amplify exon 14 and exon 16 of the prepro EGF coding sequence of 35 Han Chinese subjects and to sequence the DNA of the product. Single nucleotide polymorphism database (SNPs) was retrieved and compared with sequencing results. Results SNPs were found in 2 525bp loci of prepro EGF coding sequence in 13 out of 35 Han nationality subjects in Southwest Guizhou. The frequencies of AG and GG were 69.2% and 30.8%, respectively. The allele frequencies were 34.6% and 77.1%, respectively) at the 2576 BP position. The frequencies of SNPs, AA and AGR were 66.7% and 33.3%, respectively, and the frequencies of alleles were 83.3% and 16.7%, respectively. In contrast, there was one more single nucleotide polymorphism (SNP) in exon 14 of prepro EGF coding sequence in the Han nationality in Beijing than in the Han nationality in southwest Guizhou, that is, 2 619 BP. Other nationalities, such as Europe and the United States, not only have rs199935855 and other 7 SNPs in exon 14 of prepro EGF coding sequence, but also have rs149396988 and other 6 SNPs in exon 16 of prepro EGF coding sequence. No SNPs distribution was found in exon 16. Conclusion SNPs in exon 14 and exon 16 of the Han nationality in southwest Guizhou, the Han nationality in Beijing and the European and American nationalities have the characteristic distribution of each ethnic group and race respectively, according to which the race and population of different regions can be distinguished. Even individual identification. The characteristic distribution of SNPs can also be regarded as a genetic marker to further study the relationship between SNPs and disease.
【作者单位】：黔西南州人民医院;遵义医学院第七附院检验科;遵义医学院附属医院贵州省细胞工程重点实验室;海口保税区远兮细胞分子技术应用研发有限公司;
【基金】：贵州省黔西南州医院科研基金[(2009)84]
【分类号】：R394.5

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