中国羊驼种群MC1R基因的PCR-SSCP分析

The Polymorphism of MC1R Gene in Chinese Alpacas(Lama pacos)

探究黑素皮质素受体1(melanocortin 1-receptor,MC1R)基因型与羊驼毛色形成之间的关系,研究采用PCR-SSCP结合DNA测序方法,对60头羊驼个体(51头白色被毛,9头有色被毛)的MC1R基因的多态性进行检测,并分析了MC1R基因位点突变与羊驼不同毛色之间的相关性。结果表明,羊驼MC1R基因存在SSCP多态性,初步判定为AB和AA两种基因型,其中A基因的基因频率为55.0%,B基因的基因频率为45.0%,AB型的基因型频率为90.0%,AA型的基因型频率为10.0%,6个AA基因型均在有色被毛羊驼个体中检出;测序检测显示,AA型羊驼MC1R基因的第801号碱基发生突变,该碱基突变导致编码的氨基酸由异亮氨酸(I)突变为缬氨酸(V)。

To explore the relationship between MC1R genotype and the coat color formation in Chinese alpacas,polymorphism of MC1R gene was detected by PCR-SSCP and DNA sequencing techniques in 60 alpacas（51 natural white coat color and 9 pigmented coat color） from the Scientific Research Base of Shanxi Agriculture University.The relationship analyses were carried out to evaluate the effects of genotypes of the MC1R gene on coat color formation in alpacas.The results showed that MC1R gene has two genotypes as AB and AA in Chinese alpacas.The gene frequency of A and A are 55.0% and 45.0% individually,and the genotype frequency of AB and AA are 90.0% and 10.0% individually.All of the AA genotype is detected in 6 pigmented coat color alpacas.Polymorphic mutation of MC1R gene was located at NO.801 base which induced isoleucine（I） mutated into valine（V）.The point mutation occurred in 2 pigmented coat color alpacas among 60 experimental animals.