摘要： 为了分析绵羊KAP11-1基因的核苷酸序列变异，采用PCR-SSCP方法和DNA测序技术检测了欧拉羊、甘肃高山细毛羊、滩羊、湖羊和青海细毛羊5个群体（749只个体）KAP11-1基因的单核苷酸多态性，同时分析了等位基因频率、遗传杂合度、有效等位基因数和多态信息含量等群体遗传特征。结果表明，5个绵羊群体的KAP11-1基因中共检测到c.93C/T、c.240G/A、c.285C/G/A和c.331A/G 4个单核苷酸多态位点，且c.331A/G为非同义突变。等位基因A在5个群体中出现的频率最高（87.70%），为优势等位基因，其次为等位基因B（基因频率为11.03%），等位基因C和D的频率最低（分别为0.53%和0.74%）。群体遗传学分析结果表明，滩羊KAP11-1基因的遗传杂合度、有效等位基因数和多态信息含量均高于其余4个群体。KAP11-1基因作为羊毛经济性状的主要候选基因之一，其核苷酸序列的变异导致KAP11-1中相应氨基酸的改变，最终可能会影响羊毛纤维的结构和羊毛主要经济性状。

关键词: 绵羊, KAP11-1基因, 核苷酸序列变异, PCR-SSCP, 单核苷酸多态性

Abstract: In order to analyze sequence variations of KAP11-1 gene,single nucleotide polymorphisms (SNPs) of Oula sheep,Gansu Alpine Merino,Tan sheep,Hu sheep and Qinghai merino sheep (a total of 749 individuals) were detected using PCR-SSCP and DNA sequencing techniques in this study.Population genetics characteristics such as allele frequency,genetic heterozygosity,effective number of alleles and polymorphism information content (PIC) were analyzed simultaneously.The results suggested that four SNPs (c.93C/T,c.240G/A,c.285C/G/A and c.331A/G) in KAP11-1 gene of 5 sheep populations were discovered,and c.331A/G was non-synonymous substitution.Allele Aexhibited the highest frequency (87.70%) among five sheep populations,and it was the most common allele,allele B was the next common with the allele frequency of 11.03%,the frequency of allele C and D were the lowest,which were 0.53% and 0.74% respectively.Population genetics results showed that heterozygosity,effective number of alleles and polymorphic information content of Tan sheep were higher than those of another four sheep populations. KAP11-1 gene is one of the major candidate genes of wool economic traits.The nucleotide sequence variations of KAP11-1 gene will lead to amino acid changes of KAP11-1,then eventually affect wool fibre structure and wool economic traits.

Key words: Sheep, KAP11-1 gene, Nucleotide sequence variations, PCR-SSCP, Single nucleotide polymorphism

中图分类号: 

• Q78

• S826