Study on SNPs on part sequence of yak CAST gene | 牦牛CAST基因部分序列的SNPs研究

chinois. 采用PCR-SSCP技术,设计2对特异性引物分别对牦牛钙蛋白酶抑制蛋白基因部分内含子2、外显子3、部分内含子3和外显子8、内含子8部分序列进行单核苷酸多态性分析.结果表明：在第2内含子存在一段CTTTTTT的缺失,表现出3种基因型,其中AA、AB、BB基因型频率分别为0.7514、0.2265和0.0221,A、B等位基因频率分别为0.8646和0.1354;在第3外显子处发生2个碱基突变,分别是40455bp处G→A和40463bp处A→G的转换,40455bp和40463bp处均表现AA和AB2种基因型,2个位点AA、AB基因型频率均为0.7293、0.2707,A、B等位基因频率均为0.8646、0.1354;在第8内含子85170bp发生了A→G的转换,表现出AA和AB2种基因型,其中,AA、AB基因型频率分别为0.6354、0.3646,A、B基因频率分别为0.8177、0.1823.CAST40400、CAST40455、CAST40463和CAST85170处的遗传杂合度分别为0.2265、0.2707、0.2707和0.2990,多态信息含量分别为0.2067、0.2067、0.2067和0.2537.牦牛在CAST40400处处于Hardy-Weinberg平衡状态,在CAST40455、CAST40463和CAST85170处均处于Hardy-Weinberg不平衡状态.[著者文摘]

anglais. CAST was investigated as a potential candidate gene for a quantitative trait locus（QTL）affecting meat tenderness.In this study,two pairs of specific primers were designed to analyse CASTgene part of intron 2,exon 3 and part of intron 3 and exon 8,part of intron 8by PCR-SSCP technique.The sequencing results showed that a sequence of CTTTTTT absence was detected at 40 400bp in intron 2,the genotype frequencies of AA,AB and BB were 0.7514,0.2265 and 0.0221,and the allelic frequencies of A and B were 0.8177 and 0.1823 respectively.Two bases transformation were detected in exon 3,they were G→A at 40 455bp and A→G at 40 463bp,the genotype frequencies of AA and AB at the two sites were 0.7293 and 0.2707,and the A and B allelic frequencies were 0.8646 and 0.1354.And a base transformation of A→G in intron 8was detected.The allelic frequencies of A and B were 0.8177 and 0.182 3,and the genotype frequencies of AA and AB were 0.6354 and 0.3646 respectively.The gene heterozygosity（He）at 40400bp,40455bp,40463bp and 85170bp were 0.2265,0.2707,0.2707 and 0.299 0respectively;and the gene polymorphism information content（PIC）were 0.2067,0.2067,0.2067 and 0.2537 respectively.The population of yak was Hardy-Weinberg equilibrium at 40 400bp,but was not at 40455bp,40 463pb and 85 170bp.[著者文摘]