Reichardt J K
Department of Biochemistry, Stanford University Medical Center, CA 94305.
Nucleic Acids Res. 1991 Dec;19(25):7049-52. doi: 10.1093/nar/19.25.7049.
Galactosemia is a human inborn error of galactose metabolism due to deficiency of galactose-1-phosphate uridyl transferase. In this paper, I describe the molecular analysis of genomic DNA, mRNA and protein from 11 different galactosemic patients by Southern, Northern and Western blotting. The results of these experiments lead me to conclude that galactosemia is caused mostly by missense mutations. The unusual preponderance of missense mutations in galactosemia led me to investigate its cause. I demonstrate that all 9 patients I investigated have detectable residual enzyme activity (ranging from 0.7-6.9% of normal). This finding is of potential importance in addressing the long-term complications of galactosemia.
半乳糖血症是一种由于缺乏1-磷酸半乳糖尿苷转移酶而导致的人类先天性半乳糖代谢缺陷病。在本文中，我通过Southern印迹法、Northern印迹法和Western印迹法对11名不同的半乳糖血症患者的基因组DNA、mRNA和蛋白质进行了分子分析。这些实验结果使我得出结论，半乳糖血症主要由错义突变引起。半乳糖血症中错义突变异常占优势，这促使我去研究其原因。我证明，我所研究的9名患者都有可检测到的残余酶活性（范围为正常水平的0.7%-6.9%）。这一发现对于解决半乳糖血症的长期并发症具有潜在的重要意义。
