Abstract
The recent advances and results in the application of recombinant DNA techniques to family linkage studies has opened new perspectives for the diagnosis and prevention of Retinitis Pigmentosa (RP)(see1 for a review), and has renewed the interest in categorisation of families by recognized Mendelian pattern of inheritance with the aim to localize the genes of the disease on particular chromosomes and eventually to identify the genes and their products.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
M.A. Musarella, Gene mapping of ocular diseases, Surv.Ophthalmol. 36:285 (1992).
A.E. Krill. “Hereditary Retinal and Choroidal Diseases,Vol. I, Evaluation,” Harper & Row, Hagerstown (1972).
T.J. Keen, C.F. Inglehearn, D.H. Lester, R. Bashir, M. Jay, A.C. Bird, B. Jay, and S.S. Bhattacharya, Autosomal dominant retinitis pigmentosa: four new mutations in Rhodopsin, one of them in the retinal attachment site, Genomics 11:199 (1991).
T.J. Keen, D.H. Lester, C.F. Inglehearn, A. Curtis, and S.S. Bhattacharya, Rapid detection of single base mismatches as heteroduplexes on hydrolink gels, Trends Genet. 7:5 (1991).
G.M. Lathrop, J.M. Lalouel, C. Julier, and J. Ott, Strategies for multilocus linkage analysis in humans, Proc. Natl. Acad. Sci. USA 81:3443 (1984).
J.H. Edwards, Exclusion mapping, J. Med. Genet. 24:539 (1987).
F. Ammann, D. Klein, and A. Franceschetti, Genetic and epidemiological investigation on pigmentary degeneration of the retina and allied disorders in Switzerland, J. Neurol. Sci. 2:183 (1965).
H. Voipio, V. Gripenberg, C. Raitta, and A. Horsmanheims, Retinitis pigmentosa; a preliminary report, Hereditas 52:247 (1964).
P.J. Rosenfeld, G.S. Cowley, T.L. McGee, M.A. Sandberg, E.L. Berson, and T.P. Dryja, A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa, Nature Genetics 1:209 (1992).
J.L. Weber and P.E. May, Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction, Am. J. Hum. Genet. 44:388 (1989).
G.J. Farrar, P. Kenna, S.A. Jordan, R. Kumar-Singh, M.M. Humphries, E.M. Sharp, D. Sheils, and P. Humphries, A three base deletion in the peripherin/RDS gene in one form of retinitis pigmentosa, Nature 354:478 (1991).
R. Kumar-Singh, S.A. Jordan, G.J. Farrar, and P. Humphries, Poly (T/A) polymorphism at the human retinal degeneration slow (RDS) locus, Nucleic Acids Res. 19:5800 (1991).
R.A. Bascom, J. Garciaheras, C.L. Hsieh, D.S. Gerhard, C. Jones, U. Franke, H.F. Willard, D.H. Ledbetter, and R.R. McInnes, Localization of the photoreceptor gene roml to human chromosome-11 and mouse chromosome-19 - sublocalization to human 11g13 between PGA and PYGM, Am. J. Hum. Genet. 51:1028
J.R. Heckenlively. “Retinitis Pigmentosa,” J.B. Lippincott Co., Philadelphia (1988).
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1993 Springer Science+Business Media New York
About this chapter
Cite this chapter
Fossarello, M. et al. (1993). Genetic and Epidemiological Study of Autosomal Dominant (ADRP) and Autosomal Recessive (ARRP) Retinitis Pigmentosa in Sardinia. In: Hollyfield, J.G., Anderson, R.E., LaVail, M.M. (eds) Retinal Degeneration. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-2974-3_8
Download citation
DOI: https://doi.org/10.1007/978-1-4615-2974-3_8
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4613-6294-4
Online ISBN: 978-1-4615-2974-3
eBook Packages: Springer Book Archive