鹌鹑MC4R基因编码区群体遗传变异检测分析

 根据GenBank数据库提供的鹌鹑黑素促黑素受体4（MC4R）基因序列，设计出5对扩增引物，采用PCR SSCP分段检测方法对朝鲜鹌鹑MC4R基因外显子区域的多态性进行了检测，并对存在多态性的DNA片段进行了序列测定。SSCP分析的结果显示，第4号引物扩增的基因片段具有明显的多态性，并检测到了3种基因型（AA型，AB型，BB型）。将测序结果与GenBank数据库中鹌鹑MC4R基因序列进行比对，发现了一个单核苷酸多态性（SNP）位点：855bp位点存在一个T→C同义转换突变。基因型AA，AB和BB的频率分别为0.1933，0.6867和0.1200；等位基因A和B的频率分别为0.5367和0.4633；多态信息含量（PIC）和杂合度（H）分别为0.3736和0.4974；χ2检验的结果表明，该突变位点的基因频率未处于Hardy Weinberg平衡状态（P<0.01）。

Polymorphisms in Coding Region of MC4R Gene in Quail

Five pairs primers were designed according to the sequence of quail melanocortin 4 receptor (MC4R) gene in the GenBank database The polymorphisms of the exon region of Korean quail MC4R gene were segmentally detected by PCR SSCP method, and the polymorphic DNA fragments were sequenced. The results of SSCP showed that obvious polymorphisms were detected in the amplified fragments of the primer 4, and 3 genotypes, AA, AB and BB were detected. One single nucleotide polymorphisms (SNPs) site, a synonymous mutation of T→C at 855 bp was detected, when comparing the sequencing results with quail MC4R gene sequence in GenBank. The frequencies of genotype AA, AB and BB were 0.1933,0.6867 and 0.1200respectively. The frequencies of allele A and B were 0.5367and 0.4633respectively. The polymorphism information content(PIC)and heterozygosity(H) were 0.3736and 0.4974 respectively. The result of χ2 test showed that the gene frequency of the mutation site in the population was not in Hardy Weinberg equilibrium (P<0.01).