Eriksson S, Lindmark B, Olsson S
Acta Med Scand. 1986;219(3):291-4. doi: 10.1111/j.0954-6820.1986.tb03313.x.
alpha 1-Antitrypsin (AAT) deficiency of phenotype PiZ and idiopathic hemochromatosis (IH) predispose to the development of cirrhosis and liver cell carcinoma. Several reports have suggested an association between these two inborn errors. To elucidate this question we used a monoclonal antibody against the PiZ gentic variant of AAT to analyze and compare the PiZ gene frequency in an area (county of Jämtland in Central Sweden) with a high, and another area (the city of Malmö in Southern Sweden) with a low IH prevalence. The PiZ gene frequencies did not differ between the areas. We also analyzed sera from 27 unrelated adult males with hemochromatosis diagnosed in the high IH area for the presence of the PiZ gene product but none was a carrier of the PiZ allele. These findings strongly refute any association between. AAT deficiency and IH.
PiZ表型的α1-抗胰蛋白酶（AAT）缺乏症和特发性血色素沉着症（IH）易引发肝硬化和肝细胞癌。有几份报告表明这两种先天性疾病之间存在关联。为阐明这个问题，我们使用了一种针对AAT的PiZ基因变体的单克隆抗体，来分析和比较瑞典中部耶姆特兰县这个血色素沉着症患病率高的地区，与瑞典南部马尔默市这个血色素沉着症患病率低的地区的PiZ基因频率。这两个地区的PiZ基因频率没有差异。我们还分析了在血色素沉着症患病率高的地区被诊断为患有血色素沉着症的27名无关成年男性的血清，以检测PiZ基因产物的存在情况，但没有一人是PiZ等位基因的携带者。这些发现有力地反驳了AAT缺乏症与血色素沉着症之间的任何关联。
