%0 Journal Article
%T A novel mutation of PRSS1 gene in a Chinese hereditary pancreatitis family<br>一个遗传性胰腺炎家系中新发现的胰蛋白酶原基因突变
%A LIU Qi-Cai
%A CHENG Zu-Jian
%A YANG Yan
%A OU Qi-Shui
%A <br>刘奇才
%A 程祖建
%A 杨艳
%A 欧启水
%J 遗传
%D 2007
%I 
%X 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.
%K trypsinogen
%K mutation
%K hereditary pancreatitis<br>胰蛋白酶原基因
%K 突变
%K 遗传性胰腺炎
%U http://www.alljournals.cn/get_abstract_url.aspx?pcid=90BA3D13E7F3BC869AC96FB3DA594E3FE34FBF7B8BC0E591&jid=3E23F50E071DF18E21B2F5AEE4F1FA5E&aid=477B06E8FC84C14B&yid=A732AF04DDA03BB3&vid=771469D9D58C34FF&iid=9CF7A0430CBB2DFD&sid=0AFD076159674A31&eid=A50445FB05D4B1A0&journal_id=0253-9772&journal_name=遗传&referenced_num=12&reference_num=7