CFTR基因p.V470M多态与慢性胰腺炎发病的关系  

The relationship of p.V470M polymorphisms in CFTR gene with chronic pancreatitis in Han population

作　　者：郜峰[1] 林钗[2] 张声[1] 王桂娜[3] 冯惠娟[3] 吴文楠[3] 刘奇才[4] 

机构地区：[1]福建医科大学附属第一医院病理科,福建福州350005 [2]福建省闽清精神病防治院五区,福建闽清350800 [3]福建医科大学医学技术和工程学院检验系,福建福州350005 [4]福建医科大学附属第一医院检验科,福建福州350005

出　　处：《中国优生与遗传杂志》2013年第4期34-35,共2页Chinese Journal of Birth Health & Heredity

基　　金：国家自然科学基金课题(81201590);福建省医学创新课题(2012-CXB-21);福建省教育厅面上项目(JA12143);国家高新技术基础研究863计划课题(2012AA022604);福建省大学生创新项目(303;315;324)

摘　　要：目的研究汉族慢性胰腺炎患者囊性纤维化跨膜转导因子(cystic fibrosis transmembrane conductance regulator,CFTR)基因外显子区的异常情况及其临床特征。方法常规PCR法扩增12例慢性胰腺炎患者以及120例健康体检者的CFTR基因和胰蛋白酶原基因(cationic trypsinogen gene,PRSS1)的全部外显子,产物纯化后直接测序,并监测患者的临床指标。结果疾病组和正常对照组中均不存在PRSS1基因突变,其中9例患者CFTR基因型为p.V470M,其MV基因频率在疾病组和正常对照组中分别是(70.0%、30.0%和86.3%、13.7%),携带CFTR基因V基因型是M基因型患病风险的2.72倍。另外有1例患者的CFTR基因10号外显子区除了存在p.V470M杂合性改变外还存在p.K 483 Stop新型突变,临床表现为慢性青少年型胰腺炎并发胰腺先天分裂异常。结论 CFTR基因10号外显子p.470 V明显提高汉族慢性胰腺炎患病风险,p.K483Stop为新发现的突变形式与胰腺炎的临床表型相关。Objective： To invetigate the mutation or polymorphism of the cystic fibrosis transmembrane conductance regulator （CFTR） gene in chronic pancreatits amony Han population. Methods ： Exons of CFTR gene from 12 pantients with chronic pancreatits and 120 healthy controls were amplified by polymerase chain reaction and directly sequenced in order to determine the variability of the mutations or polymorphisms. The related data were also collected. Results p. V470M mutation was found in nine patients, and one of them had two changes in exon 10, one is p. V470M the other is p. K 483 Stop. The M470V gene frequency in the disease and normal control group is 70.0% , 30. 0% and 86. 3%, 13.7%. It shows that CFTR gene V genotype is prevalence risk 2.72 times to the M genotype in chronic pancreatitis. Conclusion p. 470V polymorphism of CFI＇R gene is significantly improve prevalence of chronic pancreatitis risk amony Han population and p. K483Stop is a noval mutant form.

关 键 词：CFTR基因 多态或突变 慢性胰腺炎 

分 类 号：R576.2[医药卫生—消化系统]