Griffiths B, Gordon A, Burchell J, Bramwell M E, Griffiths A, Price M, Taylor-Papadimitriou J, Zanin D, Swallow D M
MRC Human Biochemical Genetics Unit, University College London.
Dis Markers. 1988 Jul-Sep;6(3):185-94.
A family of mucin-type glycoproteins, present in human urine, is coded by a single highly polymorphic gene locus PUM. We have previously shown that these glycoproteins carry epitopes recognized by a series of monoclonal antibodies, many of which were raised to the human milk-fat globule membrane, and which bind to a wide variety of carcinomas and certain normal epithelia. Here we show that in the normal human mammary gland, and in breast cancers the epitopes are present on the same family of molecules as that found in urine. Thus the genetically determined variation at the PUM locus accounts for much of the electrophoretic heterogeneity of the mucin-type glycoproteins present in breast cancer and serum from breast cancer patients that has been reported previously. Knowledge of this normal inherited polymorphism is essential to the interpretation of possible changes to these molecules in malignancy.
存在于人类尿液中的一个粘蛋白型糖蛋白家族，由一个高度多态的单基因座PUM编码。我们先前已表明，这些糖蛋白带有一系列单克隆抗体识别的表位，其中许多单克隆抗体是针对人乳脂肪球膜产生的，并且能与多种癌和某些正常上皮细胞结合。在此我们表明，在正常人类乳腺以及乳腺癌中，这些表位存在于与尿液中发现的相同分子家族上。因此，PUM基因座上的遗传决定变异解释了先前报道的乳腺癌和乳腺癌患者血清中存在的粘蛋白型糖蛋白的大部分电泳异质性。了解这种正常的遗传多态性对于解释这些分子在恶性肿瘤中可能发生的变化至关重要。
