Genetic polymorphisms within the coding regions of CXCR1 gene in Chinese Holstein cattle | 中国荷斯坦牛CXCR1基因编码区的遗传多态性

中国人. 研究中国荷斯坦牛趋化因子受体1基因（Chemokine (C-X-C motif) receptor1,CXCR1）编码区的遗传多态性。采用巢式PCR、DNA测序和创造酶切位点法，对中国荷斯坦牛CXCR1基因编码区下游区域的单核苷酸多态位点（Single nucleotide polymorphisms, SNPs）进行筛查，并对筛查到的SNPs进行群体遗传多态性分析。 发现了819（A/G）、995（A/G）和1008（C/T）3个SNPs，其中995（A/G）和1008（C/T）为首次报道的多态位点，995（A/G）位点导致第332位的Arg突变为His。CXCR1基因819（A/G）、995（A/G）和1008（C/T） 3个位点在中国荷斯坦牛群体的优势等位基因分别为G、G和C，其等位基因频率分别为0.634 0，0.733 0和0.706 4。经χ2适合性检验，荷斯坦牛在3个位点均未达到Hardy-Weinberg平衡状态（P0.05）；3个位点均表现为中度多态。中国荷斯坦牛CXCR1基因编码区的遗传多态性比较丰富。

英语. The genetic polymorphism within the coding regions of CXCR1 gene in Chinese Holstein cattle has been detected. 470 of CXCR1 exon of Chinese Holstein cattle were investigated by nested-PCR, DNA sequencing and CRS-PCR. At the same time, the genetic polymorphism of the group was analyzed. Sequencing results showed that three SNPs were identified, namely 819(A/G), 995(A/G), 1 008(C/T). 819(A/G) and 1 008(C/T) were silent mutations, but 995(A/G) resulted in amino acids alteration Arg332His. In Holstein cattle G and G and C predominant allele were identical at 819(A/G) and 995(A/G) and 1 008(C/T), which were G, G, C and the allelic frequencies were 0.634 0, 0.733 0, 0.706 4 respectively.χ2 test indicated that all polymorphic sites did not meet Hardy-Weinberg equilibrium (P0.05) in Chinese Holstein cattle. The value of polymorphism information content indicated that 819(A/G), 995(A/G) and 1 008(C/T)s were moderate polymorphism in Chinese Holstein cattle. The genetic polymorphism within the coding regions of CXCR1 gene in Chinese Holstein cattle was abundant.