遗传性胰腺炎中常见突变的证据。
Evidence for a common mutation in hereditary pancreatitis.
作者信息
Bell S M, Bennett C, Markham A F, Lench N J
机构信息
Molecular Medicine Unit, University of Leeds, St James's University Hospital, UK.
出版信息
Mol Pathol. 1998 Apr;51(2):115-7. doi: 10.1136/mp.51.2.115.
Hereditary pancreatitis is an autosomal dominant disorder with incomplete penetrance. It is characterised by recurring episodes of severe abdominal pain and often presents in childhood. Recently, a mutation in the cationic trypsinogen gene was identified in this disease. Previously, only one mutation at residue 117 of the trypsinogen gene has been found in the five separate hereditary pancreatitis families, four from the USA and one from Italy. Alteration of the Arg117 site is believed to disrupt a fail-safe mechanism for the inactivation of trypsin, leading to autodigestion of the pancreas under certain conditions. Molecular analysis of the trypsinogen gene was carried out on a hereditary pancreatitis family from the UK. The same G to A mutation at residue 117 was identified in this family, suggesting that this is a common mutation in hereditary pancreatitis.
遗传性胰腺炎是一种常染色体显性疾病，具有不完全显性。其特征为反复出现的严重腹痛，且常在儿童期发病。最近，在该疾病中发现了阳离子胰蛋白酶原基因的一个突变。此前，在五个不同的遗传性胰腺炎家族中，仅在胰蛋白酶原基因的第117位残基处发现了一个突变，其中四个家族来自美国，一个来自意大利。据信，精氨酸117位点的改变会破坏胰蛋白酶失活的安全机制，导致在某些情况下胰腺发生自身消化。对来自英国的一个遗传性胰腺炎家族进行了胰蛋白酶原基因的分子分析。在这个家族中也发现了第117位残基处相同的G到A突变，这表明该突变在遗传性胰腺炎中很常见。
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