Cytochrome P450 1B1 gene mutation in Japanee patient with primary congenital glaucoma

PURPOE: To report a novel miene mutation and DNA polymorphim of the CYP1B1gene in Japanee patient with primary congenital glaucoma. METHOD: A erie of 11 unrelated patient with primary congenital glaucoma wa examined. Patient were followed in the Kagohima Univerity Hopital between 1979 and 1998. DNA wa extracted from leukocyte of the patient, their familie, and unrelated healthy individual. Amplicon panning the coding region of the CYP1B1 gene were examined by direct equencing and enzyme-retriction detection. REULT: In the 11 unrelated patient, beide the previouly reported inertional mutation (1620 in G), a novel miene mutation wa identified at codon 444 to replace arginine with glutamine (R444Q) in one patient. The novel miene mutation coegregated in the relevant family a an autoomal receive pattern and wa not found in other patient or control individual. In addition, five polymorphic ite were found at codon 48, 119, 330, 432, and 449. Thee polymorphic allele did not coegregate with the dieae, and they were found in healthy individual a well. CONCLUION: Approximately 20% of Japanee patient with primary congenital glaucoma may be affected by mutation in the CYP1B1 gene. Further tudie are jutified to explore whether a relationhip exit between the phenotypic expreivity of the dieae and the type of mutation.