CAJ | 학술논문

目的分析丝氨酸蛋白酶抑制剂Kazal 1型(SPINK1)基因N34S突变在不同类型慢性胰腺炎中的发生率,探讨SPINK1基因突变与慢性胰腺炎发病的关系.方法采集79例慢性胰腺炎患者及60例健康对照者的血液标本,提取基因组DNA;聚合酶链反应(PCR)对SPINK1基因进行扩增,TspR1酶切进行限制性片段长度多态性分析(RFLP);部分病例PCR产物进行DNA序列分析,证实SPINK1基因N34S突变.结果共检测到6例SPINKI N34S突变,其中特发性胰腺炎4例,胆源性胰腺炎1例,酒精性胰腺炎1例,自身免疫性胰腺炎及健康对照组未检出该基因突变.结论 SPINK1基因N34S突变在特发性胰腺炎中发生率较高,而胆源性胰腺炎、酒精性胰腺炎和自身免疫性胰腺炎中该突变与健康对照组比较差异无统计学意义,提示该突变与特发性胰腺炎发病相关.
목적 분석사안산단백매억제제Kazal 1형(SPINK1)기인N34S돌변재불동류형만성이선염중적발생솔,탐토SPINK1기인돌변여만성이선염발병적관계.방법 채집79례만성이선염환자급60례건강대조자적혈액표본,제취기인조DNA;취합매련반응(PCR)대SPINK1기인진행확증,TspR1매절진행한제성편단장도다태성분석(RFLP);부분병례PCR산물진행DNA서렬분석,증실SPINK1기인N34S돌변.결과 공검측도6례SPINKI N34S돌변,기중특발성이선염4례,담원성이선염1례,주정성이선염1례,자신면역성이선염급건강대조조미검출해기인돌변.결론 SPINK1기인N34S돌변재특발성이선염중발생솔교고,이담원성이선염、주정성이선염화자신면역성이선염중해돌변여건강대조조비교차이무통계학의의,제시해돌변여특발성이선염발병상관.
Objective To analyze the N34S mutation of serine protease inhibitor Kazal type 1 (SPINK1) gene among patients with chronic pancreatitis of different types,and explore the molecular mechanism of occurrence and development of chronic pancreatitis.Methods Genomic DNA was extracted from 79 patients with chronic pancreatitis and 60 healthy controls.Polymerase chain reaction (PCR) was done first to amplify part of SPINK1 gene and then restriction fragment length polymorphism (RFLP) by using TspR1 to distinguish the N34S mutation.DNA sequencing analysis was also performed to confirm the mutation status.Results N34S mutation of SPINK1 was detected in 6 patients (four cases of idiopatic pancreatitis,one case of biliary pancreatitis,and one case of alcoholic pancreatitis).No N34S mutation was found in patients with autoimmune pancreatitis and healthy controls.Conclusion The occurrence of N34S mutation of SPINK1 was statistically higher in patient with idiopathic pancreatitis,while the frequence of the SPINK1 gene mutation was less significant in patients with biliary,alcoholic and autoimmune pancreatitis.This study provides evidence for the role of N34S mutation of SPINK1 in the pathogenesis of pancreatitis.