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Nucleic Acids Research, 1991, Vol. 19, No. 25 7049-7052
© 1991

Foreword

Molecular analysis of 11 galactosemia patients

Juergen K.V. Reichardt*

Department of Biochemistry, Stanford University Medical Center Stanford, CA 94305, USA

Galactosemia is a human Inborn error of galactose metabolism due to deficiency of galactoss –1-phosphate uridyl transferase. In this paper, I describe the molecular analysis of genomlc DMA, 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.

*Present address: Howard Hughes Medical Institute and Department of Cell Biology, Baylor College of Medicine, Texas Medical Center, Houston, TX 77030, USA.


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