Molecular study of the rhodopsin gene in retinitis pigmentosa patients in the Basque Country

Journal of Medical Genetics

Volumn 35, Issue 5, 1998, Pages 387-390

  Alvarez, A I ^a   Arostegui, E ^a   Martin, R ^a   Duran, M ^a   Onaindia, M L ^a   Molina, M ^a   Tejada, M I ^a  

^a HOSPITAL DE BASURTO   (Spain)

Author keywords

Gene mutation; Retinitis pigmentosa; Rhodopsin

Indexed keywords

RHODOPSIN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL EXAMINATION; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; ELECTRORETINOGRAM; GENETIC COUNSELING; HUMAN; HUMAN CELL; INHERITANCE; MAJOR CLINICAL STUDY; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SPAIN;

EID: 0031897717     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.5.387     Document Type: Article

References (21)

1. Nathans J, Merbs SL, Sung CH, Weitz CJ, Wang Y. Molecular genetics of human visual pigments. Annu Rev Genet 1992;26:403-24.
2. Dryja T, Li T. Molecular genetics of retinitis pigmentosa. Hum Mol Genet 1995;4:1739-43.
3. 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;53:80-9.
4. Rosenfeld P, Cowley G, McGee T, Sandberg M, Berson E, Dryja T. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recesive retinitis pigmentosa. Nat Genet 1992;1:209-13.
5. Kumaranickavel G, Maw M, Denton MJ, et al. Missense rhodopsin mutation in a family with recesive RP. Nat Genet 1994;8:10-11.
6. Reig C, Antich J, Gean E, et al. Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa. Hum Genet 1994;3:283-6.
7. Alvarez AI, Duran M, Molina M, et al. Molecular screening of the rhodopsin gene in 65 retinitis pigmentosa patients from the Basque Country. Abstract, 46th Annual Meeting of the American Society of Human Genetics. 29 October-2 November 1996, San Francisco, USA. Am J Hum Genet 1996;59:A391.
8. Sheffield VC, Fishman GA, Beck JS, Kimura AE, Stone EM. Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis. Am J Hum Genet 1991;49: 699-706.
9. Myers RM, Maniatis T, Lerman US. Detection and localization of single base changes by denaturing gradient gel elec-trophoresis. In: Wu R, ed. Methods in enzymology. Vol 55. New York:Academic Press, 1987:501-27.
10. Myers RM, Sheffield VC, Cox DR. Detection of single base changes in DNA: ribonuclease cleavage and denaturing gradient gel electrophoresis. In: Davies KE, ed. Genome analysis. A practical approach. Oxford: IRL Press, 1988:95-139.
11. Myers RM, Sheffield VC, Cox DR. Mutation detection by PCR, GC clamps and denaturing gradient gel electrophoresis. In: Ehrlich HA, ed. PCR technology. New York: Stockton, 1989:71-8.
12. Reig C, Alvarez AI, Tejada MI, et al. A new mutation in the 3′-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa. Hum Mutat 1996;8:93-4.
13. Reig C, Llecha N, Antich J, et al. A missense mutation (His211Arg) and a silent (160 Thr) mutation within the rhodopsin gene in a Spanish autosomal dominant retinitis pigmentosa family. Hum Mol Genet 1994;3:195-6.
14. Dryja TP, McGee TL, Hahn LB, et al. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med 1990;323:1302-7.
15. Sung CH, Davenport CM, Hennessey JC, et al. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci USA 1991;88:6481-5.
16. Iriondo M, Barbero MC, Izaguirre N, Manzano C. Data on six short-tandem repeat polymorphisms in an autochthonous Basque population. Hum Hered 1997;47:131-7.
17. Esparza B, Pestoni C, Martin MD, Merino F, Carracedo A. Distribution of the HLA-DQA1 polymorphism in the population of the Basque Country (Spain). Gene Geogr 1995;9:53-8.
18. Manzano C, Moral P, De la Rua C, Moreno P. Serum protein polymorphism (GC, TF, and PI subtypes) in the Basque population of Alava. Hum Hered 1993;43:121-5.
19. Dryja T, Hahn L, Cowley G, McGee T, Berson E. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci USA 1991;88:9370-4.
20. Sandberg MA, DiFranco CW, Dryja TP, Berson EL. Clinical expresion correlates with location of rhodopsin mutation in dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 1995;36:1934-42.
21. Ruiz A, Teijeira S, Rodriguez MJ, et al. XVIII Spanish Meeting for Human Genetics. Spanish Association of Human Genetics meeting, 30 October-3 November, 1995, Sevilla, Spain.