Journal article

Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma

DP Dimasi, AW Hewitt, T Straga, J Pater, JR MacKinnon, JE Elder, T Casey, DA Mackey, JE Craig

CLINICAL GENETICS | BLACKWELL PUBLISHING | Published : 2007

Abstract

Analysis of CYP1B1 in primary congenital glaucoma (PCG) patients from various ethnic populations indicates that allelic heterogeneity is high, and some mutations are population specific. No study has previously reported the rate or spectrum of CYP1B1 mutations in Australian PCG patients. The aim of this study is to determine the frequency of CYP1B1 mutations in our predominately Caucasian, Australian cohort of PCG cases. Thirty-seven probands were recruited from South-Eastern Australia, along with 100 normal control subjects. Genomic DNA was extracted and the coding regions of CYP1B1 analysed by direct sequencing. Sequence analysis identified 10 different CYP1B1 disease-causing variants in e..

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