Danks D M
J Med Genet. 1986 Apr;23(2):99-106. doi: 10.1136/jmg.23.2.99.
Several mutations affecting the transport of copper and zinc in humans and in mice have been discovered over the last 15 years, joining the long known disturbance of copper transport in Wilson's disease. Menkes' disease (classical and mild variant forms) and X linked Ehlers-Danlos syndrome (type IX, X linked cutis laxa) have features in common with one another and with the brindled (Mobr) and blotchy (Moblo) mouse mutants, respectively. There may be one allelic series of mutants in each species or two loci may be involved in each. The toxic milk mutant (tx) in the mouse may be homologous to Wilson's disease in man. The defect of intestinal absorption of zinc in acrodermatitis enteropathica has no homologue yet in the mouse. However, the lethal milk (lm) mutant in the mouse may be homologous to a condition of zinc deficiency described in a few breastfed, low birth weight infants. Many more genetic defects of transport of copper and of zinc may await discovery. Conversely, these mutants are valuable in elucidating the normal processes of copper and zinc transport.
在过去15年里，人们发现了几种影响人类和小鼠体内铜和锌转运的突变，这加入了早已为人所知的威尔逊病中铜转运紊乱的行列。门克斯病（经典型和轻型变异型）和X连锁埃勒斯-丹洛斯综合征（IX型，X连锁皮肤松弛症）分别与有斑纹（Mobr）和斑点（Moblo）的小鼠突变体有共同特征。每个物种可能存在一个等位基因突变系列，或者每个物种可能涉及两个基因座。小鼠中的有毒牛奶突变体（tx）可能与人的威尔逊病同源。肠病性肢端皮炎中锌的肠道吸收缺陷在小鼠中尚未找到同源物。然而，小鼠中的致死性牛奶（lm）突变体可能与少数母乳喂养的低体重婴儿中描述的锌缺乏状况同源。可能还有更多铜和锌转运的遗传缺陷有待发现。相反，这些突变体对于阐明铜和锌转运的正常过程很有价值。
