MOLECULAR DIAGNOSIS OF CHOROIDEREMIA

Purpose The aim of this study was to define the RT-PCR-PTT parameters for CHM gene analysis and to evaluate its interest as a method for CHM mutation screening. Methods The entire CHM coding region was reversed -transcribed in three overlapping cDNA segments (RT-PCR) which were am plified and further analyzed by PTT after in vitro transcription/trans lation. Results his strategy enabled us to detect a truncated peptide in each of the 6 unrelated patients from southern France who were inve stigated. The mutation was further characterized by direct sequencing of the RT-PCR product. Conclusion In CHM gene, all conditions are pres ent to make the RT-PCR-PTT strategy the method of choice for mutation screening. As a result of the simplified protocol described in this st udy, the families of the patients could benefit from accurate carrier- status assessment.