Single nucleotide polymorphisms of the myocilin gene in primary open-angle glaucoma patients

Chinese Journal of Medical Genetics

Volumn 21, Issue 1, 2004, Pages 70-73

  Fan, Bao Jian ^a,b   Leung, Yuk Fai ^a   Pang, Chi Pui ^a   Baum, Larry ^a   Tam, Oi Sin ^a   Wang, Ning ^b   Lam, Shun Chiu ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b SOUTHEAST UNIVERSITY   (China)

Author keywords

Myocilin gene; Open angle glaucoma; Single nucleotide polymorphisms

Indexed keywords

MYOCILIN;

AGE DISTRIBUTION; ARTICLE; CHI SQUARE DISTRIBUTION; CHINESE; CONTROLLED STUDY; ETHNOLOGY; EXON; FISHER EXACT TEST; GEL ELECTROPHORESIS; GENE FREQUENCY; GENETIC POLYMORPHISM; GENOTYPE; HIGH THROUGHPUT SCREENING; HONG KONG; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; OPEN ANGLE GLAUCOMA; POPULATION RESEARCH; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CASE-CONTROL STUDIES; CYTOSKELETAL PROTEINS; DNA; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENE FREQUENCY; GENOTYPE; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HUMANS; MALE; MIDDLE AGED; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE;

MARTES PENNANTI;

EID: 1042286370     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Stone EM, Fingert JH, Alward WL, et al. Identification of a gene that causes primary open angle glaucoma. Science, 1997, 275: 668-670.
2. Fingert JH, Heon E, Liebmann JM, et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet, 1999, 8: 899-905.
3. Fan BJ, Liang XH, Peng ZP, et al. Study on single nucleotide polymorphism of TIGR gene in primary open-angle glaucoma patients. Natl Med J China, 2002, 82: 743-747.
4. Alward WL, Kwon YH, Khanna CL, et al. Variations in the myocilin gene in patients with open-angle glaucoma. Arch Ophthalmol, 2002, 120: 1189-1197.
5. Pang CP, Leung YF, Fan B, et al. TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma. Invest Ophthalmol Vis Sci, 2002, 43: 3231-3235.
6. Shen LX, Basilion JP, Stanton VP Jr. Single-nucleotide polymorphisms can cause different structural folds of mRNA. Proc Natl Acad Sci U S A, 1999, 96: 7871-7876.
7. Wiggs JL, Vollrath D. Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOG. Arch Ophthalmol, 2001, 119: 1674-1678.
8. Kim BS, Savinova OV, Reedy MV, et al. Targeted disruption of the Myocilin gene (Myoc) suggests that human glaucoma-causing mutations are gain of function. Mol Cell Biol, 2001, 21: 7707-7713.
9. Rezaie T, Child A, Hitchings R, et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science, 2002, 295: 1077-1079.
10. Wang N, Peng ZP, Fan BJ, et al. Case control study on the risk factors of primary open angle glaucoma in China. Chin J Epidemiol, 2002, 23: 293-296.