CAJ | 학술논문

目的分析阴离子型胰蛋白酶原(PRSS2)基因G191R突变在急性胰腺炎(AP)和慢性胰腺炎(CP)患者中的发生率,探讨PRSS2基因突变对胰腺炎易感性的影响.方法采集82例AP、73例CP及138例健康体检者的血液标本,提取基因组DNA.应用巢式PCR对PRSS2基因进行扩增.PCR产物用Hpy188Ⅲ酶切,行限制性片段长度多态性分析(RFLP),部分产物测序验证.结果 PRSS2基因的巢式PCP产物长度为436 bp,RFLP2获得309 bp和127 bp两个片段,为RPSS2基因G191R突变(即GGA→AGA)所致.DNA测序证实PRSS2基因G191R突变.AP患者中5例发生RPSS2基因G191R突变,突变率为6.1％(5/82),OR=0.682,95％ CI 0.231 ～ 2.010; CP患者突变率为1.4％ (1/73),OR =0.145,95％ CI 0.019～1.145;健康对照组为8.7％ (12/138).CP组的G191R突变率显著低于健康对照组(x2 =0.432,P=0.035),而AP组与健康对照组的差异无统计学意义(x2=0.487,P=0.485).结论 PRSS2基因G191R突变可促进阴离子型胰蛋白酶原的降解,降低慢性胰腺炎的发生率.
목적 분석음리자형이단백매원(PRSS2)기인G191R돌변재급성이선염(AP)화만성이선염(CP)환자중적발생솔,탐토PRSS2기인돌변대이선염역감성적영향.방법 채집82례AP、73례CP급138례건강체검자적혈액표본,제취기인조DNA.응용소식PCR대PRSS2기인진행확증.PCR산물용Hpy188Ⅲ매절,행한제성편단장도다태성분석(RFLP),부분산물측서험증.결과 PRSS2기인적소식PCP산물장도위436 bp,RFLP2획득309 bp화127 bp량개편단,위RPSS2기인G191R돌변(즉GGA→AGA)소치.DNA측서증실PRSS2기인G191R돌변.AP환자중5례발생RPSS2기인G191R돌변,돌변솔위6.1％(5/82),OR=0.682,95％ CI 0.231 ～ 2.010; CP환자돌변솔위1.4％ (1/73),OR =0.145,95％ CI 0.019～1.145;건강대조조위8.7％ (12/138).CP조적G191R돌변솔현저저우건강대조조(x2 =0.432,P=0.035),이AP조여건강대조조적차이무통계학의의(x2=0.487,P=0.485).결론 PRSS2기인G191R돌변가촉진음리자형이단백매원적강해,강저만성이선염적발생솔.
Objective To observe the prevalence of anionic trypsinogen (PRSS2) gene G191R mutation in patients with acute pancreatitis (AP) and chronic pancreatitis (CP),and to investigate the effect of PRSS2 gene G191R mutation on susceptibility to pancreatitis.Methods The blood samples of 82 patients with acute pancreatitis,73 patients with chronic pancreatitis and 138 healthy subjects were collected,and genomic DNA was extracted.Nest PCR were performed to amplify PRSS2 gene and restriction fragment length polymorphism (RFLP) was followed by using Hpy188Ⅲ to distinguish the G191R mutation.DNA sequencing analysis was performed to confirm the mutation status.Results The size of nest PCR products was 436 bp.RFLP2 produced 309 bp and 127 bp fragments,which were resulted from PRSS2 gene G191R mutation (GGA →AGA).DNA sequencing analysis of the PCR products further confirmed the PRSS2 gene G191R mutation.Five of eighty-two(6.1％) patients with acute pancreatitis had PRSS2 gene G191R mutation (OR=0.682,95％ CI 0.231 ～ 2.010); one of seventy-three (1.4％) patients with chronic pancreatitis had the mutation (OR =0.145,95％ CI 0.019 ～ 1.145),and the corresponding value in healthy group was 8.7％ (12/138).The G191R mutation rate in patients with chronic pancreatitis was significantly lower than that in healthy group (x2 =0.432,P =0.035),but the G191R mutation rates were not significantly different between AP group and healthy group (x2 =0.487,P =0.485).Conclusions PRSS2 gene G191R mutation facilitates the degradation of anionic trypsin,and may reduce the incidence of chronic pancreatitis.