A novel truncating mutation of cytochrome P4501B1 (CYP1B1) gene in primary infantile glaucoma

American Journal of Ophthalmology

Volumn 128, Issue 3, 1999, Pages 370-372

  Kakiuchi, Tomoko ^a   Isashiki, Yasushi ^a   Nakao, Kumiko ^a   Sonoda, Shozo ^a   Kimura, Katsuaki ^a   Ohba, Norio ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 ISOENZYME; DNA FRAGMENT;

ARTICLE; BUPHTHALMOS; CONTROLLED STUDY; GENE INSERTION; GENE MUTATION; GLAUCOMA; HOMOZYGOSITY; HUMAN; LEUKOCYTE; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ARYL HYDROCARBON HYDROXYLASES; CYTOCHROME P-450 ENZYME SYSTEM; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, AGAR GEL; GLAUCOMA; HETERODUPLEX ANALYSIS; HUMANS; INFANT; MALE; MUTATION; POLYMERASE CHAIN REACTION;

EID: 0032865552     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(99)00143-9     Document Type: Article

References (5)

1. Stoilov I., Akarsu A.N., Sarfarazi M. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary infantile glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet. 4:1997;641-647.
2. Stoilov I., Akarsu A.N., Alozie I., et al. Sequence analysis and homology modeling suggest that primary infantile glaucoma on 2p21 results from mutation disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. Am J Hum Genet. 62:1998;573-584.
3. Bejjani B.A., Lewis R.A., Tomey K.F., et al. Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary infantile glaucoma in Saudi Arabia. Am J Hum Genet. 62:1998;325-333.
4. Sarfarazi M. Recent advances in molecular genetics of glaucomas. Hum Mol Genet. 6:1997;1667-1677.
5. Akarsu A.N., Turacli M.E., Aktan S.G., et al. A second locus (GLC3B) for primary infantile glaucoma (Buphthalmos) maps to the 1p36 region. Hum Mol Genet. 5:1996;1199-1203.