Screening for point mutations in rhodopsin gene among one hundred Chinese patients with retinitis pigmentosa

Chinese Journal of Medical Genetics

Volumn 19, Issue 6, 2002, Pages 463-466

  Zhang, Xiaoli ^a   Fu, Weiling ^a   Chi Pui, Pang ^b   Kwun Yan, Yeung ^b  

^a THIRD MILITARY MEDICAL UNIVERSITY   (China)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

DNA sequencing; Gene mutation; Retinitis pigmentosa; Rhodopsin gene

Indexed keywords

CELL CULTURE; DISEASES; DNA SEQUENCES; ELECTROPHORESIS; GENES; MUTAGENESIS; PATIENT TREATMENT; SENSITIVITY ANALYSIS;

DISEASE CAUSING MUTATIONS;

BIOMEDICAL ENGINEERING;

GENOMIC DNA; RHODOPSIN;

ARTICLE; CHINESE; DNA SEQUENCE; EYE DISEASE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; RETINITIS; RETINITIS PIGMENTOSA;

MUS MUSCULUS;

EID: 0036902906     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. Berson EL. Retinitis pigmentosa: The Friedenwald lecture. Invest Ophthalmol Vis Sci, 1993, 34: 1659-1676.
2. Dryja TP, McEvoy JA, McGee TL, et al. Novel rhodopsin mutations Gly114Va1 and Gln184Pro in dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci, 2000,4: 3124-3127.
3. Guan HJ, Gong QR, Jin HC, et al. Search for mutations of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. Chin J Ocul Fundus Dis, 1998, 2: 108-110.
4. Gilbert C, Rahi J, Eckstein M, et al. Hereditary disease as a cause of childhood blindness: Regional variation. Ophthalmol Genet, 1995, 16: 1-3.
5. Leung YF, Tam POS, Tong WC, et al. High throughput conformation sensitive gel electrophoresis (HTCSGE) for rapid detection of novel single nucleotide polymorphisms (SNPs). Biotechniques, 2001, 30: 334-340.
6. Dryja TP, McGee TL, Hahn LB, et al. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. New Engl J Med, 1990, 323: 1302-1307.
7. Saga M, Mashima Y, Akeo K, et al. A mutation in codon 181 (Glu? Lys) of the rhodopsin gene in a Japanese family. Ophthalmol Genet, 1994, 15: 61-67.
8. Li T, Snyder WK, Olsson JE, et al. Transgenic mice carrying the dominant rhodopsin mutation P347S: Evidence for defective vectorial transport of rhodopsin to the outer segments. Proc Natl Acad Sci U S A, 1996, 93: 14176-14181.
9. Deretic D, Schmerl S, Hargrave PA, et al. Regulation of sorting and post-Golgi trafficking of rhodopsin by its C-terminal sequence QVS(A)PA. Proc Natl Acad Sci U S A, 1998, 95: 10620-10625.
10. Macke JP, Davenport CM, Jacobson SG, et al. Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: Implications for the structure and function of rhodopsin. Am J Hum Genet, 1993, 53: 80-89.
11. Horn F, Weare J, Beuker MW, et al. GPCRDB: An information system for G protein-coupled receptors. Nucleic Acids Res, 1998, 26: 277-281.
12. McDowell JH, Robinson PR, Miller RL, et al. Only phosphorylated residues in the carboxyl terminal region of rhodopsin will activate arrestin. Invest Ophthalmol Vis Sci, 2000, 41: S608.