Clinical And Molecular Genetic Study Of Dopa-responsive Dystonia

Objective To investigate in Chinese population the relationship between GTP cyclohydrolase 1 gene mutation and phenotypes of dopa-responsive dystonia(DRD). Methods 2 ml of venous blood was drawn from each of the 16 members (including 6 patients and their relatives) of 4 families and genome DNA was extracted by standard technique. GCH-1 genes were ampified by PCR, and reaction products were sequenced by DNA sequencer. Results Novel mutation points of GCH-1 gene were found in 2 of the 4 Chinese families, but not in other 2 families. Conclusion GCH-1 gene mutation is the etiological basis of only partial Chinese families.