牦牛CAPN1基因部分序列的SNPs研究

本研究采用PCR-SSCP技术,设计了2对引物分别对牦牛钙激活蛋白酶基因内含子8、外显子9、内含子9和外显子10部分序列以及第12内含子和13外显子部分序列进行单核苷酸多态性分析.结果表明:与牛基因序列(AF252504S2)相比,牦牛基因在10 581bp处发生了G→A转换,位于第12内含子,表现出3种基因型,其中A、B基因频率分别为0.698 9和0.301 1,AA、AB和BB基因型频率分别为0.475 1、0.447 5和0.077 3,遗传杂合度(He)和多态信息含量(PIC)分别为0.420 9和0.332 3;在5 837bp处发生G→T的转换,位于第9内含子,表现出3种基因型,A、B基因频率分别为0.908 8和0.091 2,AA、AB和BB基因型频率分别为0.828 7、0.160 2和0.011 1,遗传杂合度(He)多态信息含量(PIC)分别为0.165 7和0.152 0;牦牛在这2个位点上处于Hardy-Weinberg平衡状态.

SNPs in part sequence of yak CAPN1 gene

Two pairs of specific primers were designed to analyse CAPN1 gene intron 12,part of exon 13 and sequence of intron 8,exon 9,intron 9 and part of exon 10 by PCR-SSCP technique.The sequencing result showed that the B allele had a base transformation of G→A at the 10 581th bp contrasting with the AF252504S2 of cattle in intron 12,but the A allele had the same sequence here to the AF252504S2.The allelic frequencies of A and B were 0.698 9 and 0.301 1,and the genotype frequencies of AA,BB and AB were 0.475 1,0.447 5 and 0.077 3 respectively.The gene heterozygosity(He) and polymorphism information content(PIC) were 0.420 9 and 0.332 3,respectively.B allele had a base transformation of G→T at the 5 837th bp in intron 9,but the A allele had the same sequence here to the AF252504S2.The allelic frequencies of A and B were 0.908 8 and 0.091 2,and the genotype frequencies of AA,BB and AB were 0.828 7,0.160 2 and 0.011 1 respectively.The gene heterozygosity(He)and polymorphism information content(PIC) were 0.165 7 and 0.152 0,respectively.The population of yak was Hardy-Weinberg equilibrium at the two loci.