Article
Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing.
American journal of human genetics - 1 Jun 1992
van den Hurk J A, van de Pol T J, Molloy C M, Brunsmann F, Rüther K, Zrenner E, Pinckers A J, Pawlowitzki I H, Bleeker-Wagemakers E M, Wieringa B
Abstract excerpt
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...
Topics
- Amino Acid Sequence
- Base Sequence
- Choroid
- Choroideremia
- Chromosome Banding
- Chromosome Deletion
- Chromosome Mapping
- DNA
- DNA, Single-Stranded
- Exons