中文摘要：

利用测序、PCR-RFLP和PCR-SSCP等技术对杜洛克、长白、大白猪MC1R基因进行研究发现了5个多态位点。其中,668位点G→C突变发生在5＇UTR,其余4个多态位点nt894insCC（894位点CC插入）,1318C→T,1554G→A和1197G→A发生在编码区。nt894insCC导致编码蛋白过早终止。1318C→T,1554G→A和1197G→A突变分别导致a164Val,Ala243Thr和Asp124Asn氨基酸的改变。所有长白、大白猪个体在894位点均存在CC插入,其余多态位点基因型分别为668GG,1197AA,1318CC,1554GG。所有杜洛克个体在894位点均不存在CC插入,其余多态位点基因型分别为668CC,1197GG,1318TT,1554AA。所有突变位点无杂合子出现。由此可以推测,668G→C,1318C→T和1554G→A可能与杜洛克的红毛色存在相关,导致1197G→A突变无意义的894位点CC插入可能与长白、大白猪白毛色存在相关。

英文摘要：

Variations of Melanocortin Receptor 1 （MC1R） were investigated using sequencing, PCR-RFLP and PCR-SSCP, in three pig breeds, Landrace, Yorkshire, and Duroc. Five polymorphic sites were found, in which 668G→C occurred within 5＇ UTR, nt894insCC in coding region resulting in a premature stop at codon 56, and 1318C→T, 1554G→A, l197G→A in coding region resulting in Ala164Val, Ala243Thr, and Asp124Asn respectively. All individuals in Landrace and Yorkshire present homozygous 668GG, 1197AA, 1318CC, and 1554GG, and have CC insertions at the 894 site, whereas the individuals in Duroc present a contrast homozygous 668CC, 1197GG, 1318TT, and 1554AA, and have no CC insertions at the corresponding site. No heterozygote has been found at these mutation sites. Presumably, 668G→C, 1318C→T, and 1554G→A may be associated with the recessive red color in the Duroc breed, and nt894insCC making 1197G→A nonsense may be associated with the white color in Landrace and Yorkshire breeds.