一个遗传性胰腺炎家系中新发现的胰蛋白酶原基因突变.PDFVIP

HEREDITAS (Beijing) 2007 9 29(9): 1067 ―1070 ISSN 0253-9772 研究报告 DOI: 10.1360/yc-007-1067 刘奇才, 程祖建, 杨艳, 欧启水 , , 350005 : 对 1 个遗传性胰腺炎(hereditary pancreatitis, HP)家系中 6 例成员和 120 例无亲缘关系健康人的胰蛋白酶 原基因(protease serine 1, PRSS1)进行 PCR 扩增, 产物纯化后测序, 结合受检者的血清肿瘤标志物、糖尿病相关 生化指标以及近亲属的一般临床资料进行分析。结果发现 4 例家系成员 PRSS1 基因 3 号外显子区 136 位碱基 存在 C →T 杂合性突变, 他们的基因型表现为野生型与突变型杂合现象, 另外在先证者 PRSS1 基因的 3 号外显 子区 171 位碱基还存在着一个同义突变点(C →T), 而对照组和家系其他成员中未发现此两种突变, 突变阳性患 者表现为乳酸、糖基化血红蛋白和糖类肿瘤标志物(CA19-9 、CA125)增高。因此, PRSS1 基因 3 号外显子区 136 位碱基 C →T 杂合性突变与该家系遗传性胰腺炎有关, 是该家系中遗传性胰腺炎的遗传易感因素。 : 胰蛋白酶原基因; 突变; 遗传性胰腺炎 A novel mutation of PRSS1 gene in a Chinese hereditary pancreatitis family LIU Qi-Cai, CHENG Zu-Jian, YANG Yan, OU Qi-Shui Department of Laboratory Medicine , the First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, China Abstract: We report the identification of a novel mutation in the protease serine 1 (PRSS1) gene in a hereditary pancreati- tis (HP) family. Relevant clinical data were collected in this 24–member family. Moreover, the PRSS1 gene was amplified from the genomic DNA of the members with pancreatitis. The amplified products were analyzed by sequencing. A cytosine (C) to thymine (T) mutation in PRSS1 exon3 was detected in four affected members. This novel PRSS1 mutation may be an important factor associated with HP. Keywords: trypsinogen; mutation; hereditary pancreatitis (hereditary pancreatitis, HP) , 60%70%HP , 1%, 1952 (cationic trypsinogen gene, PRSS1)R122H Comfort Steinberg N29I [1] 50% , , , HP