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目的探测鉴定汉族和布依族个体表皮生长因子前体基因(preproEGF)第20、21外显子及其内含子DNA序列区段中的单核苷酸多态。方法设计合成11条引物分别以布依族和汉族个体的基因组DNA为模板进行大片段PCR扩增和产物的DNA测序;以GenBank资料库相应的核酸序列为参照分析比较布依族、汉族个体和外国人种的单核苷酸多态分布。结果布依和汉族个体基因组样本的PCR扩增均得到一条长约4.5kb的DNA片段,其长度覆盖preproEGF基因的第20、21外显子及其内含子;汉族个体与布依族个体的DNA测序图显示:汉族个体有两个单核苷酸变体存在,一个位于preproEGF基因序列的第86380bp(C/T),另一个位于第84580bp(T/-);布依族个体也有一个单核苷酸变体存在,位于preproEGF基因序列的第84329bp(T/C);与GenBank的DNA序列对比分析发现:汉族个体的(C/T)变体是一个单核苷酸多态位点,迄今虽有报道见于欧洲和非洲撒哈拉民族人种,但在汉民族则未见报道;布依族个体的(T/C)变体也是一个单核苷酸多态位点,该位点的多态虽已有报道见于汉族和其它民族人种,但在布依民族则未见报道。结论本研究发现了汉族和布依族个体preproEGF基因的第20内含子区段存在3个新的单核苷酸多态,即86380bp(C/T)、84580bp(T/-)和84329bp(T/C),但汉族个体的84580bp(T/-)单核苷酸多态尚需进一步证实。
Objective To detect single nucleotide polymorphisms (SNPs) in the 20, 21 exons and intron DNA sequences of preproEGF in Han and Buyi ethnic groups. Methods A total of 11 primers were designed and synthesized to amplify the DNA of the large fragment by using the genomic DNA of Buyi nationality and Han nationality respectively as template. The genomic DNA of Buyi ethnic group, Han nationality and foreigner Single nucleotide polymorphism distribution. Results A DNA fragment of about 4.5 kb in length was obtained by PCR amplification of the individual genomic samples from Buyi and Han nationalities. The length of the fragment covered the 20 and 21 exons and their introns of preproEGF gene. DNA sequencing of Han individuals and Buyi individuals The figure shows that there are two SNPs in Han individuals, one located at the 86380 bp (C / T) of the preproEGF gene sequence and the other at the 84580 bp (T / -); the Buyi individuals also have a single nucleotide (C / T) variant of Han nationality was a single nucleotide polymorphism (SNP) locus, although there was The reports were from Saharan ethnic groups in Europe and Africa, but were not reported in Han ethnicity. The T / C variant of Buyi individuals was also a single nucleotide polymorphism (SNP) Reported in the Han and other ethnic groups, but not in the Buyi reported. Conclusions There are three SNPs in the 20th intron of preproEGF gene in Han and Buyi individuals, ie 86380bp (C / T), 84580bp (T / -) and 84329bp (T / C), but 84580bp (T / -) single nucleotide polymorphisms in Han individuals need to be further confirmed.