CAJ | 학술논문

目的在27例儿茶酚胺介导的多形性室速患者及家庭成员中寻找CASQ2基因突变.方法应用直接DNA序列分析对临床诊断为家族性多形性室速27例患者及家庭成员进行进行基因突变分析.应用Taqman基因分型检测在以1400名正常人群中确定CASQ2变异的频率.结果在一个多形性室速家系中发现了1个新的杂合子改变F189L.通过与多种生物比对,证实该改变发生于在第2结构域一个高度保守的氨基酸上,位于第5外显子的F189L的改变,使编码蛋白的第189位氨基酸由苯丙氨酸改变为亮氨酸.应用Taqman SNP genotyping assay分析方法证实正常人群1400名中未发现同样改变.在CASQ2基因中未发现其他引起疾病的基因突变.结论发现了CASQ2基因的1个新F189L突变.
목적 재27례인다분알개도적다형성실속환자급가정성원중심조CASQ2기인돌변.방법 응용직접DNA서렬분석대림상진단위가족성다형성실속27례환자급가정성원진행진행기인돌변분석.응용Taqman기인분형검측재이1400명정상인군중학정CASQ2변이적빈솔.결과 재일개다형성실속가계중발현료1개신적잡합자개변F189L.통과여다충생물비대,증실해개변발생우재제2결구역일개고도보수적안기산상,위우제5외현자적F189L적개변,사편마단백적제189위안기산유분병안산개변위량안산.응용Taqman SNP genotyping assay분석방법증실정상인군1400명중미발현동양개변.재CASQ2기인중미발현기타인기질병적기인돌변.결론 발현료CASQ2기인적1개신F189L돌변.
Objective To identify mutations and variants in CASQ2 gene in 27 CPVT patients/family members.Methods Mutational analysis was performed with direct DNA sequence analysis.The frequency of an identified CASQ2 variant Was determined using the Taqman genotyping assay.Results A novel heterozygotts mutation, F189L,in CASQ2 gene was identified in one family with CPVT.This mutation occurred at the evolutionarily,highly conserved phenylalanine residue at codon 189,and was not present in 1400 control individuals.No other disease-causing mutations were identified in the CASQ2 gene.Conduslon A novel of F189L in the CASQ2 gene was identified.