CACNA1S gene encodes theα1 subunit of the calcium channel.The mutation of CACNA1S gene can cause hypokalemic periodic paralysis(HypoKPP)and maliglant hyperthermia synarome(MHS)in hu-man beings.Current research on CAC...CACNA1S gene encodes theα1 subunit of the calcium channel.The mutation of CACNA1S gene can cause hypokalemic periodic paralysis(HypoKPP)and maliglant hyperthermia synarome(MHS)in hu-man beings.Current research on CACNA1S was mainly in human being and model animal,but rarely in livestock and poultry.In this study,Yorkshire pigs(23),Pietrain pigs(30),Jinhua pigs(115)and the second generation(126)of crossbred of Jinhua and Pietrain were used.Primers were designed ac-cording to the sequence of human CACNA1S gene and PCR was carried out using pig genome DNA.PCR products were sequenced and compared with that of human,and then single nucleotide poly-morphisms(SNPs)were investigated by PCR-SSCP,while PCR-RFLP tests were performed to validate the mutations.Results indicated:(1)the 5211 bp DNA fragments of porcine CACNA1S gene were ac-quired(GenBank accession number:DQ767693)and the identity of the exon region was 82.6%be-tween human and pig;(2)fifty-seven mutations were found within the cloned sequences,among which 24 were in exon region;(3)the results of PCR-RFLP were in accordance with that of PCR-SSCP.Ac-cording to the EST of porcine CACNA1S gene published in GenBank(Bx914582,Bx666997),8 of the 11 SNPs identified in the present study were consistent with the base difference between two EST frag-ments.展开更多
基金the National Natural Science Foundation of China(Grant No.30371024)the National Basic Research Program of China(Grant No.2006CB102101)
文摘CACNA1S gene encodes theα1 subunit of the calcium channel.The mutation of CACNA1S gene can cause hypokalemic periodic paralysis(HypoKPP)and maliglant hyperthermia synarome(MHS)in hu-man beings.Current research on CACNA1S was mainly in human being and model animal,but rarely in livestock and poultry.In this study,Yorkshire pigs(23),Pietrain pigs(30),Jinhua pigs(115)and the second generation(126)of crossbred of Jinhua and Pietrain were used.Primers were designed ac-cording to the sequence of human CACNA1S gene and PCR was carried out using pig genome DNA.PCR products were sequenced and compared with that of human,and then single nucleotide poly-morphisms(SNPs)were investigated by PCR-SSCP,while PCR-RFLP tests were performed to validate the mutations.Results indicated:(1)the 5211 bp DNA fragments of porcine CACNA1S gene were ac-quired(GenBank accession number:DQ767693)and the identity of the exon region was 82.6%be-tween human and pig;(2)fifty-seven mutations were found within the cloned sequences,among which 24 were in exon region;(3)the results of PCR-RFLP were in accordance with that of PCR-SSCP.Ac-cording to the EST of porcine CACNA1S gene published in GenBank(Bx914582,Bx666997),8 of the 11 SNPs identified in the present study were consistent with the base difference between two EST frag-ments.
