多重PCR检测慢性胰腺炎患者的PRSS1、SPINK1基因突变  

Multiple PCR in analysis of genes PRSS1 and SPINK1 in patients with Chronic Pancreatitis

作　　者：王凤清[1] 刘奇才[1] 洪国粦[1] 李雯[1] 徐美华[1] 林咏梅[1] 

机构地区：[1]福建医科大学附属第一医院检验科,福建福州350005

出　　处：《中国实验诊断学》2008年第3期371-373,共3页Chinese Journal of Laboratory Diagnosis

基　　金：福建省卫生厅青年科研基金资助项目(2005-2-54)

摘　　要：目的探讨多重PCR技术在筛查慢性胰腺炎患者的易感基因即胰蛋白酶原基因(protease serine 1,PRSS1)和胰腺囊性纤维化基因(serine protease inhibitor Kazal type1,SPINK1)突变的情况。方法对26例慢性胰腺炎患者的胰蛋白酶原基因和胰腺囊性纤维化基因应用多重PCR扩增,产物纯化后测序,并与NCBI公布的标准序列比对。结果扩增产物与NCBI公布的序列相吻合,而且在1例慢性胰腺炎患者中发现PRSS1基因存在新的突变形式,4号外显子区32位碱基存在C→T杂合性突变,而未发现SPINK1基因突变的患者。结论多重PCR技术可以用于筛查目前常见的慢性胰腺炎相关的基因突变。Objective Using multiple PCR to screen the mutational status of the protease sefine 1 （ PRSS1 ） gene and sefine protease inhibitor Kazal type1 （SPINK1） gene in chronic pancreatifis. Methods The PRSS1 gene and SPINK1 gene in 26 patients with chronic pancreatitis was detected using multiple PCR . The amplified products were analyzed by sequencing and compared with the standard sequence on NCBI. Results It shows that the sequence of the amplified products was coincided to the standard sequence on NCBI. And a new mutation in PRSS1 in one affected member was detected. A cytosine （C） to thymine （T） mutation in PRSS1 exon4 was detected. Not found mutation in SPINK1 compare with the standard sequence on NCBI. Conclusion Multiple PCR can be use to screen the mutational status of PRSS1 gene and SPINK1 gene in chronic pancreatitis.

关 键 词：多重PCR 胰蛋白酶原基因 胰腺囊性纤维化基因 慢性胰腺炎 

分 类 号：R576[医药卫生—消化系统]