Vitone Louis J, Greenhalf William, Howes Nathan R, Raraty Michael G T, Neoptolemos John P
Division of Surgery and Oncology, The University of Liverpool, 5th Floor UCD Building, Daulby Street, Liverpool, L69 3GA, United Kingdom.
Endocrinol Metab Clin North Am. 2006 Jun;35(2):271-87, viii. doi: 10.1016/j.ecl.2006.02.006.
There are multiple PRSS1 mutations described in hereditary pancreatitis but only a minority of these are clinically relevant. The two most frequent point mutations are in exon 2 (N29I) and exon3 (R122H), found in diverse racial populations. Both mutations result in early onset pancreatitis but the mechanism underlying this phenotype is unclear. The frequency of these mutations in such diverse populations suggests they have spontaneously occurred many times. The origin of the major mutations may be explained by gene conversions, accounting for multiple founders. The implications are discussed in terms of mechanism of action of the mutations and clinical presentation.
遗传性胰腺炎中已描述了多种PRSS1突变，但其中只有少数具有临床相关性。两种最常见的点突变位于外显子2（N29I）和外显子3（R122H），在不同种族人群中均有发现。这两种突变均导致胰腺炎早发，但其表型背后的机制尚不清楚。这些突变在如此多样化人群中的频率表明它们已多次自发出现。主要突变的起源可能通过基因转换来解释，这导致了多个奠基者的出现。本文从突变的作用机制和临床表现方面对其影响进行了讨论。
