Analysis of the CYP1B1 gene mutation in primary congenital glaucoma patients of Hubei Han nationality

Chinese Journal of Ophthalmology

Volumn 43, Issue 9, 2007, Pages 779-783

  Jiang, Fa Gang ^a   Liu, Xiao Wen ^a   Hou, He Ping ^a  

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

Author keywords

Aryl hydrocarbon hydroxylases; Child; Glaucoma; Mutation

Indexed keywords

CYP1B1 PROTEIN, HUMAN; CYTOCHROME P450; DNA;

ARTICLE; CASE CONTROL STUDY; CHINA; EXON; GENE; GENETICS; GLAUCOMA; HUMAN; MUTATION;

CASE-CONTROL STUDIES; CHINA; CYTOCHROME P-450 ENZYME SYSTEM; DNA; EXONS; GENES; GLAUCOMA; HUMANS; MUTATION;

EID: 36148993017     PISSN: 04124081     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. Francios J. Congenital glaucoma and its inheritance. Ophthalmologica, 1980,181:61-73.
2. Stoilov I, Akarsu AN, Sarfarazi M. Identification of three different truncating mutations in primary congenital glaucoma (Buphthalmos ) in families linkd to the GLC3A locus on chromosome 2p21. Hum Mol Genet, 1997,6:641-647.
3. Sarfarazi M, Akarsu AN, Hossain A, et al. Assignment of a locus (GLC3A) for primary congenital glaucoma ( Buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics, 1995,30:171-177.
4. Stoilov I, Akarsu AN, Alozie I, et al. Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. Am J Hum Genet, 1998,62:573-584.
5. Stoilov I, Costa VP, Vasconcellos JP, et al. Molecular genetics of primary congenital glaucoma in Brazil. Invest Ophthalmol Vis Sci, 2002,43:1820-1727.
6. Stoilov IR, Sarfarazi M. The third genetic locus (GLC3C) for primary congenital glaucoma (PCG) maps to chromosome 14q 24.3. New York: ARVO Annual Meeting,2002:5-10.
7. Tang YM, Wo YY, Stewart J, et al. Isolation and characterization of the human cytochrome P450 CYP1B1 gene. J Biol Chem, 1996, 271:28324-28330.
8. Sutter TR, Tang YM, Hayes CL, et al. Complete cDNA sequence of a human dioxin-induceble mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2. J Biol Chem, 1994,269:13092-13099.
9. + -ATPase in the cornea. Proc Natl Acad Sci USA, 1987,84:8125-8129.
10. Bejjani BA, Stockton DW, Lewis RA, et al. Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum Mol Genet, 2000,9: 367-374.
11. Plasilova M, Stoilov I, Sarfarazi M, et al. Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. J Med Genet, 1999,36:290-294.
12. Kakiuchi-Matsumoto T, Isashichi Y, Ohba N, et al. Cytochrome P4501B1 gene mutations in Japanese patients with primary congenital glaucoma. Am J Ophthalmol,2001,131:345-350.
13. Mashima Y, Suzuki Y, Sergeev Y, et al. Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma. Invest Opthalmol Vis Sci, 2001, 42:2211-2216.