Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form.

Abstract excerpt

A 444leucine to proline mutation detected by a NciI polymorphism in the human glucocerebrosidase gene was studied to investigate the correlation of the three clinical phenotypes of Gaucher disease with this mutation in 11 Japanese patients with Gaucher disease (type I, 8 patients; type II, 1 patient; type III, 2 patients) and to determine the feasibility of the use of genomic probe DNA for carrier detection and...

Topics

• Deoxyribonucleases, Type II Site-Specific
• Female
• Gaucher Disease
• Humans
• Leucine
• Male
• Mutation
• Pedigree
• Phenotype
• Polymorphism, Restriction Fragment Length
• Proline