胰蛋白酶原基因新突变胰腺炎患者的临床分子生物学特征

Clinical and molecular characteristics of pancreatitis patients with novel mutation of protease serine 1 gene

目的:分析1例胰蛋白酶原基因新突变慢性胰腺炎患者的分子生物学特征.方法:收集患者的一般资料,并对胰腺炎易感基因-胰蛋白酶原基因(protease serine 1,PRSS1)进行PCR扩增,纯化后直接测序.进行文献回顾,初步分析其发病原因.结果:慢性胰腺炎患者的胰蛋白酶原基因3号外显子区存在c.369C→T突变为杂合性突变,造成p.141 Ala→Pho.携带胰蛋白酶原基因突变的胰腺炎患者与普通的胰腺炎患者具有一样的胰腺酶谱规律.结论:PRSS1基因3号外显子的c.369C→T杂合性突变与胰腺炎有关.

AIM： To analyze the mutation of protease serine 1 （PRSS1） gene in patients with chronic pancreatitis （CP）. METHODS： The general data of one female CP patient were collected, and the PRSS1 gene were amplified using polymerase chain reaction （PCR） and then sequenced. Meanwhile, the related literatures were retrospectively analyzed in order to investigate the pathogenic mechanism. RESULTS： We found c.369 C→T mutation in exon 3 of PRSS1 gene and this mutation resulted in an amino change （p.141 Ala→Pho）. There was no difference in the enzyme spectrum （AMY, LIPA and CRP） between this female patient and general CP patients. CONCLUSION： The mutation of c.369 C→T in PRSS1 gene may be related to CP.