野猪MC4R基因的克隆及变异初步研究

The MC4R Gene Cloning and Mutation Analysis in Wild Boar

黑素皮质素受体4是在人类肥胖研究中发现的重要调节因子,参与调节动物的体重、采食量和能量稳态,缺失MC4R基因的突变纯合体小鼠出现遗传性肥胖。为了进一步揭示其群体遗传变异,寻找新的遗传标记,本研究对野猪(Sus scrofa ussuricus)MC4R基因进行了克隆(GenBank accession NoDQ388767)和序列分析,并对所发现的错义突变进行了基于限制性内切酶HindⅢ的PCR-RFLP分析。序列分析表明野猪与民猪MC4R基因的编码区序列完全相同,与大白猪相比存在4个SNPs;对14头野猪的酶切多态性分析表明该突变位点是多态位点,并且3种基因型的分布符合Hardy-Weinberg定律。结果表明,野猪具有独特的遗传信息。

Melanocortin 4 receptor （MC4R） is associated with human obesity and plays an important role in the regulation of body weight, food intake and energy balance. MCAR knockout mice develope hereditary obesity. In order to further reveal its genetic variability in population, and to find new genetic markers, MCAR gene of Wild Boar（ Sus scrofa ussuricus ） was cloned and analyzed. The polymorphic analysis on the newly found miszense variant was done with PCR-RFLP using the endonuclease HindⅢ . Sequence analysis showed that the CDS identity between Wild Boar and Min Pig was 100%, and that there were four SNPs between Wild Boar and Yorkshire. Polymorphic analysis made clear that the variant was polymorphic site, and that the distribution of three genotypes conformed to the Hardy-Weinberg law. Our results indicate that Wild Boar has its unique in genetic information.