Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing

By making use of positional cloning strategies we recently isolated a candidate gene for choroideremia (CHM), which is transcribed in retina, choroid, and/or retinal pigment epithelium. The gene contains an open reading frame that is structurally altered in 10 CHM patients with sizable deletions and...

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Veröffentlicht in:American journal of human genetics 1992-06, Vol.50 (6), p.1195-1202
Hauptverfasser: VAN DEN HURK, J. A. J. M, VAN DE POL, T. J. R, ROPERS, H.-H, CREMERS, F. P. M, MOLLOY, C. M, BRUNSMANN, F, RÜTHER, K, ZRENNER, E, PINCKERS, A. J. L. G, PAWLOWITZKI, I. H, BLEEKER-WAGEMAKERS, E. M, WIERINGA, B
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Sprache:eng
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Zusammenfassung:By making use of positional cloning strategies we recently isolated a candidate gene for choroideremia (CHM), which is transcribed in retina, choroid, and/or retinal pigment epithelium. The gene contains an open reading frame that is structurally altered in 10 CHM patients with sizable deletions and in a female patient with a balanced translocation involving the Xq21 band. Employing PCR-SSCP analysis and direct DNA sequencing we have now detected and characterized different point mutations in five patients with CHM. Each of these mutations introduces a termination codon into the open reading frame of the CHM candidate gene, thereby predicting a distinct truncated protein product. Together these findings provide convincing evidence for the candidate gene being identical with the choroideremia gene.
ISSN:0002-9297
1537-6605