广西巴马小型猪JAK2基因外显子14克隆及SNP位点分析

【目的】克隆广西巴马小型猪非受体型酪氨酸蛋白激酶（JAK2）基因外显子14并进行SNP位点分析，为探讨广西巴马小型猪JAK2基因多态性与有关临床疾病治疗奠定基础。【方法】参照GenBank已发表的猪JAK2基因编码序列设计引物，克隆出猪JAK2基因外显子14，经测序鉴定后，利用PCR-SSCP技术对其进行SNP位点分析。【结果】PCR扩增获得的巴马小型猪JAK2基因外显子14序列为205 bp，与猪的同源性为100.0%，与人类的同源性为94.2%；猪和人类在JAK2基因外显子14序列中有6个位点不同；PCR-SSCP分析结果表明，JAK2基因外显子14不存在多态性。【结论】广西巴马小型猪JAK2基因外显子14不存在多态性，其基因纯合度高，是进行育种研究和医学试验的理想实验动物模型。

Cloning and SNP analysis of JAK2 14th exon

Objective]Cloning and SNP analysis of JAK2 14th exon in Guangxi Bama mini-pig were carried out to explore the polymorphism of JAK2 gene and to establish the foundation for relevant clinical treatments.Method]A pair of primers was designed according to the JAK2 gene coding sequence taken from GenBank.After cloning and sequencing of 14th exon in JAK2 gene,its SNP analysis was performed using PCR-SSCP.Results]The amplified JAK2 sequence of Guangxi Bama mini-pig was 205 bp,which homology with pigs and humans was recorded as 100 and 94.2%,respectively.JAK2 14th exon in humans had six different locus compared to that of pigs.The results of PCR-SSCP analysis showed 14th exon in JAK2 gene has no polymorphism.Conclusion]The 14th exon of JAK2 gene of Guangxi Bama mini-pig has no any polymorphism but high homozygosity,and it was a desirable animal sample for breeding and medical research.