Maceratesi P, Daude N, Dallapiccola B, Novelli G, Allen R, Okano Y, Reichardt J
Institute for Genetic Medicine, University of Southern California, Los Angeles 90033, USA.
Mol Genet Metab. 1998 Jan;63(1):26-30. doi: 10.1006/mgme.1997.2645.
The galactosemias are a series of three inborn errors of metabolism caused by deficiency of any one of the three human galactose-metabolic enzymes: galactokinase (GALK), galactose-1-phosphate uridyl transferase (GALT), and UDP-galactose 4' epimerase (GALE). We report here the characterization of the entire coding sequence of the GALE gene and screening for mutations in epimerase-deficient individuals. The human GALE gene is about 4 kb in size and is divided into 11 exons on chromosome band 1p36. We have identified five mutations in the GALE gene of epimerase-deficient galactosemia patients. The patients were either homozygotes or compound heterozygotes for mutations. These results confirm that epimerase-deficiency galactosemia is the result of missense mutations in the GALE gene and indicate that the disease is characterized by extensive allelic heterogeneity.
半乳糖血症是一系列三种先天性代谢缺陷病，由人类三种半乳糖代谢酶中的任何一种缺乏引起，这三种酶分别是半乳糖激酶（GALK）、1-磷酸半乳糖尿苷转移酶（GALT）和UDP-半乳糖4'-表异构酶（GALE）。我们在此报告GALE基因完整编码序列的特征以及对表异构酶缺乏个体的突变筛查。人类GALE基因大小约为4kb，位于1号染色体带1p36上，分为11个外显子。我们在表异构酶缺乏的半乳糖血症患者的GALE基因中鉴定出了五个突变。这些患者为突变的纯合子或复合杂合子。这些结果证实表异构酶缺乏性半乳糖血症是GALE基因错义突变的结果，并表明该疾病具有广泛的等位基因异质性。
