PURPOSE To determine the possible molecular genetic defect underlying primary congenital glaucoma (PCG) in India and to identify the pathogenic mutations causing this childhood blindness. METHODS Twenty-two members of five clinically well-characterized consanguineous families were studied. The primary candidate gene CYP1B1 was amplified from genomic DNA, sequenced, and analyzed in control sub...

Several independent lines of evidence have revealed an instructive role for retinoic acid (RA) signalling in the establishment of normal pattern and cellular specification of the vertebrate embryo. Molecular analyses have previously identified the major RA-synthesising (RALDH1-3) and RA-degrading (CYP26A-C1) enzymes as well as other components involved in RA processing (e.g. CRABP). Although th...

Cytochrome P450-1B1 (CYP1B1) is a major enzyme catalyzing the formation of genotoxic 4-hydroxyestradiol. This enzyme is also involved in the activation of polycyclic aromatic hydrocarbons and heterocyclic aromatic amines, mammary carcinogens in experimental animals. CYP1B1 is genetically polymorphic, and the variations in the CYP1B1 gene may be related to the risk of breast cancer. We evaluated...

Studies investigating possible associations between cytochrome P4501B1 (CYP1B1) polymorphisms and breast cancer risk have been inconsistent. We set out to ascertain whether there might be an association between polymorphisms in exon 2 (codon 119, G-->T) and exon 3 (codon 432, G-->C) of CYP1B1 and breast cancer in a Chinese Han population in the rural region of Ningxia. Using an allele-specific ...

T he influence of estrogen on blood pressure is complicated and sometimes contradictory. Premenopausal women have a lower incidence of hypertension, but recent clinical trials suggest that postmenopausal hormone replacement therapy does not necessarily decrease the risk of cardiovascular disease. Sexually dimorphic hypertension is evident in multiple animal models, yet only some indicate a crit...

PURPOSE Here, we present two patients with congenital anterior staphyloma, with mutations in the CYP1B1 gene. METHODS We reviewed the medical records, including the genetic analysis. RESULTS Two unrelated patients presented with congenital anterior staphylomas. Both patients showed mutations in the CYP1B1 gene. The first patient, the product of a consanguineous marriage, showed a homozygous...

results we identified no mutations in these patients in the three screened positions. conclusions to ensure that these genes play no role in the disease, evaluation of the non-coding regions of both the cyp1b1 and myoc genes is strongly recommended, since other genes are involved in the pathogenesis of glaucoma. patients and methods forty patients with poag were recruited from the ophthalmic di...

PURPOSE This study was designed to analyze two candidate genes, myocilin (MYOC) and cytochrome P450 1B1 (CYP1B1), in a Chinese pedigree of juvenile glaucoma with goniodysgenesis. METHODS In a three-generation family of juvenile glaucoma with goniodysgenesis (13 members), six of them were patients with glaucoma and the rest were asymptomatic. All members of the family underwent complete ophtha...

PURPOSE To determine the distribution of CYP1B1 gene mutations in Brazilian patients with primary congenital glaucoma (PCG). METHODS PCG diagnosis was established by presence of buphthalmos in at least one affected eye and associated high intraocular pressures before the age of 3 years. CYP1B1 mutation screening of 52 patients with PCG was performed by SSCP and direct sequencing of PCR fragme...

PURPOSE To assess whether loci other than GLC3A, GLC3B, and GLC3C are linked to primary congenital glaucoma (PCG). METHODS The gene CYP1B1 at GLC3A was screened in 19 Iranian PCG probands who had been recruited mostly from among individuals of Turkish ethnicity and individuals from central and eastern Iran. The gene MYOC was screened in patients from this cohort who lacked CYP1B1 mutations an...