胰腺炎发病的基因遗传背景在不同种族中的表现形式

The mutation types of the pathogenic genes of pancreatitis in different ethnic groups

目的研究基因因素在不同种族胰腺炎人群中的表现形式。方法回顾国外文献并且对部分汉族胰腺炎患者的DNA标本进行胰蛋白酶原基因(cationic trypsinogen,PRSS1)、胰分泌胰蛋白酶抑制剂基因Kazal 1型(serine protease inhibitors of the Kazaltype 1,SPINK1)、囊性纤维化基因(cystic fibrosis transmembrane conductance regulator,CFTR)PCR扩增,产物纯化后直接测序,并收集不同基因型患者的临床资料(发病年龄、病程、并发症等)和实验室数据,进行统计和比较分析,与其他类型的胰腺炎进行对比。结果PRSS1基因存在多种突变形式:集中在欧美国家,主要为R122H(>100)和N29I(>50)两种突变形式,在亚洲人群中则是以A121T和C139S突变为主,而且是杂合性突变;SPINK1基因突变与胰腺炎相关性在各地均有报道,存在多种突变形式,主要为N34S;CFTR基因突变在北美和西欧人群中报道较多,而且不存在突变热点。结论胰腺炎相关的基因在不同的种群中呈现不同的突变热点或突变区域,相同肤色人种存在较为相似的突变形式和临床表现。

Objective To research the manifestation of gene factors in different ethnic pancreatitis crowd. Methods The literature was reviewed and the genes test on the patients with pncreatitis of Han population was made, including serine protease inhibitors of the Kazal type 1 （SPINK1） , cystic fibrosis transmembrane conductance regulator （CFTR） and PRSS1 gene, and direct sequencing was clone to find mutation in the gene. The clinical and laboratory data were collected. Results PRSS1 gene had many kinds of mutation forms： in the European and American, the main mutations were R122H （ 〉 100） and N29I （〉50）, but in the Asian crowd, the main mutations were A121T and C139S mutations, that were more heterozygosity mutations. The SPINKI gene mutation in the patients with pancreatitis bad the report in each place, there were not any different mutation forms in the various races, and mainly was N34S. The CFTR gene mutation was mainly associated with the chronic pancreatitis, and most reports were in North America and West Europe crowd, but no hot mutation was present. Conclusion The pancreatitis-related genes have different mutation hot spot or region in the different population, the same skin ethnic group has the similar mutation form and the clinical manifestation.