CAJ | 학술논문

兰尼定受体1（Ryanodine Receptor1，RYR1）基因的 n 等位基因是导致猪应激综合征的主效基因。为探明主产区从江香猪群体中是否存在 n 等位基因的污染，采用 PCR－RFLP 和 AS－PCR 方法对贵州从江香猪群体中 n 等位基因的多态性进行了检测。结果表明：从江香猪血液基因组 DNA 经扩增得到659 bp 的 DNA 片段，200头从江香猪的基因型均为纯合 NN 型，N 等位基因频率为100％；对659 bp 扩增片段克隆测序发现1个新的变异位点（T1922C），导致成熟肽 V641A 替换。T1922C 位点基因型均为 TC 杂合型，T 等位基因和 C 等位基因频率均为50％。经三维结构预测，V641A 替换位于 RYR1蛋白 SPRY1结构域的上游，T1922C 变异对猪的兰尼定受体功能可能没有直接影响。
란니정수체1（Ryanodine Receptor1，RYR1）기인적 n 등위기인시도치저응격종합정적주효기인。위탐명주산구종강향저군체중시부존재 n 등위기인적오염，채용 PCR－RFLP 화 AS－PCR 방법대귀주종강향저군체중 n 등위기인적다태성진행료검측。결과표명：종강향저혈액기인조 DNA 경확증득도659 bp 적 DNA 편단，200두종강향저적기인형균위순합 NN 형，N 등위기인빈솔위100％；대659 bp 확증편단극륭측서발현1개신적변이위점（T1922C），도치성숙태 V641A 체환。T1922C 위점기인형균위 TC 잡합형，T 등위기인화 C 등위기인빈솔균위50％。경삼유결구예측，V641A 체환위우 RYR1단백 SPRY1결구역적상유，T1922C 변이대저적란니정수체공능가능몰유직접영향。
The n allele of ryanodine receptor1 (RYR1)gene is the major gene to result in porcine stress syndrome.The polymorphism of n allele in Congjiang Xiang pig population was detected by PCR-RFLP and AS - PCR methods to probe n allelic contamination in Congjiang Xiang pig population of main producing area.The results showed that DNA fragment with 659 bp is amplified from genome DNA of Congjiang Xiang pig’s blood,and the genotype of 200 Congjiang Xiang pigs is homozygous NN,which indicates that N allele frequency is 100%. One new variation locus (T1922C)is detected in clone sequencing of 659 bp amplification fragment,which results in replacement from Valine to Alanine at 641 locus of RYR1.The genotype with T1922C locus is TC heterozygosis and the frequency of T and C allele is 50% respectively.The prediction of three dimensional structure showed that V641A replacement is in the upstream of SPRY1 structural domain of RYR1 protein and T1922C variation may have no direct effect on function of porcine ryanodine receptor.