Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization.

Autor: den Hollander AI; Department of Human Genetics, University Hospital Nijmegen, Nijmegen, 6500 HB, The Netherlands. A.denHollander@antrg.azn.nl, van Driel MA, de Kok YJ, van de Pol DJ, Hoyng CB, Brunner HG, Deutman AF, Cremers FP
Jazyk: angličtina
Zdroj: Genomics [Genomics] 1999 Jun 15; Vol. 58 (3), pp. 240-9.
DOI: 10.1006/geno.1999.5823
Abstrakt: We have constructed human cDNA libraries enriched for retina- and retinal pigment epithelium (RPE)/choroid-specific cDNAs through suppression subtractive hybridization. The sequence of 314 cDNAs from the retina enriched library and 126 cDNAs from the RPE/choroid enriched library was analyzed. Based on the absence of a database match, 25% of the retina cDNA clones and 16% of the RPE/choroid cDNA clones are novel cDNAs. The expression profiles of 86 retina and 21 RPE/choroid cDNAs were determined by a semiquantitative reverse transcription polymerase chain reaction technique. Thirty-three cDNAs were expressed exclusively or most prominently in retina or RPE/choroid. These cDNAs were mapped in the human genome by radiation hybrid mapping. Eleven cDNAs colocalized with loci involved in retinal disorders. One cDNA mapped in a 1.5-megabase critical region for autosomal recessive retinitis pigmentosa (RP12). Another cDNA was assigned to the 7.7-cM RP17 linkage interval. Seven cDNAs colocalized with four loci involved in Bardet-Biedl syndrome.
(Copyright 1999 Academic Press.)
Databáze: MEDLINE
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