Taggart R T, Samloff I M, Raffel L J, Graham A, Cass C, Petersen G M, Rotter J I, Skolnick M H, Schwartz C E, Bell G I
Am J Hum Genet. 1986 Jun;38(6):848-54.
Pepsinogens (PGA) are the inactive precursors of pepsin, the major acid protease found in the stomach. The PGA gene family exhibits polymorphic variation in human populations that can either be demonstrated by electrophoretic analysis of the proteins or by analysis of the respective genes with cDNA probes. Here, we describe the interrelationships between the most common pepsinogen protein phenotypes and the corresponding pepsinogen haplotypes (A, B, and C) containing different combinations of the PGA3, PGA4, and PGA5 genes. We propose that this unusual genetic variation involving haplotypes that contain three, two, and one genes, respectively, is the result of molecular evolution by gene duplication.
胃蛋白酶原（PGA）是胃蛋白酶的无活性前体，胃蛋白酶是胃中发现的主要酸性蛋白酶。PGA基因家族在人群中表现出多态性变异，这可以通过对蛋白质进行电泳分析或使用cDNA探针分析相应基因来证明。在这里，我们描述了最常见的胃蛋白酶原蛋白表型与包含PGA3、PGA4和PGA5基因不同组合的相应胃蛋白酶原单倍型（A、B和C）之间的相互关系。我们认为，这种涉及分别包含三个、两个和一个基因的单倍型的异常遗传变异是基因复制导致分子进化的结果。
