FOXE1 gene mutation screening by multiplex PCR/DHPLC in CHARGE syndrome and syndromic and non-syndromic cleft palate.
Denaturing high-performance liquid chromatography (DHPLC) has established itself as one of the most powerful tools for DNA variation screening. FOXE1, a highly GC-rich gene involved in syndromic cleft palate, is under investigation in thyroid dysgenesis, nonsyndromic cleft palate and squamous cell carcinoma. A technique for fast and simultaneous detection of sequence variants in the entire coding region of the FOXEl gene based on multiplex PCR/DHPLC is presented here. Given its characteristics of high sensitivity and rapidity, the testing strategy developed by us appears to be a reliable approach for FOXE1 analysis in the screening of a large population at risk.
Department of Odontostomatology, University of Messina, Italy.
Mario
M
Venza
Maria
M
Visalli
Isabella
I
Venza
Claudia
C
Torino
Rita
R
Saladino
Diana
D
Teti
D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D002972:Cleft Palate / Q000235:genetics*; D017931:DNA Primers; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
D017931:DNA Primers; C106894:FOXE1 protein, human; D051858:Forkhead Transcription Factors