This study chooses the New Zealand White rabbits as an experimental material to search the mutation sites of α-defensins gene 5 ( DEFA5) CDS region by direct sequencing using the Case-Control design .Then ,the HRM technology is conducted to determine the genotypes of these mutation sites , and analyses the relationship between the genetic variation and susceptibility of non -specific gastrointestinal disorder of the New Zealand rabbit .Results show that the mutation was detected in the 76 bp( c.76 C>A) sites of DEFA5 gene coding region,and is non-synonymous mutation,which results in the 26 amino acid changing from alanine into aspartic acid (p.Ala26Asp) in the DEFA5 coding region.The c.76 C>A site and the frequency of A allele are:22%and 33%in Case-Control group ,and the frequency of A allele has significant differences between the two groups ( P <0 .05 ) .The OR value of A allele and AA geno-type are 0.577(0.39 -0.085,P=0.0046) and 0.16 (0.06-0.43l,P <0.0001) at the 95%confi-dence level respectively .The results indicates that both A allele and AA genotype can reduce the suscep-tibility risk of New Zealand rabbit ’ s nonspecific gastrointestinal disorder .%本试验采用 Case-Control试验设计,以新西兰兔为材料,通过直接测序的方法寻找α-防御素5基因 CDS区域的突变位点,针对突变位点采用 HRM技术进行基因分型,分析遗传变异与新西兰兔非特异性消化道紊乱易感性的关联性。结果发现:在α-防御素5(α-defensin,DEFA5)基因编码区的76 bp 处( c.76 C>A),这个突变为非同义突变,导致编码区第26位氨基酸由丙氨酸变为天冬氨酸( p.Ala26Asp)。 c.76 C>A位点,A等位基因在 Case-Control组的频率分别为:22%和33%,A 等位基因在两群体间频率差异达到显著水平(P <0.05),A等位基因的OR 值为0.577(95%置信区间为0.39-0.085,P =0.0046), AA基因型的OR 为0.16(95%置信区间为0.06-0.43,P <0.0001),表明A等位基因和 AA 基因型能降低新西兰兔非特异性消化道紊乱易感性风险。
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