FOXE1 gene mutation screening by multiplex PCR/DHPLC in CHARGE syndrome and syndromic and non-syndromic cleft palate

Mario Venza; Maria Visalli; Isabella Venza; Claudia Torino; Rita Saladino; Diana Teti

doi:10.1016/j.jchromb.2006.03.028

FOXE1 gene mutation screening by multiplex PCR/DHPLC in CHARGE syndrome and syndromic and non-syndromic cleft palate

J Chromatogr B Analyt Technol Biomed Life Sci. 2006 May 19;836(1-2):39-46. doi: 10.1016/j.jchromb.2006.03.028. Epub 2006 Apr 11.

Authors

Mario Venza¹, Maria Visalli, Isabella Venza, Claudia Torino, Rita Saladino, Diana Teti

Affiliation

¹ Department of Odontostomatology, University of Messina, Italy.

PMID: 16584930
DOI: 10.1016/j.jchromb.2006.03.028

Abstract

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.

MeSH terms

Base Sequence
Chromatography, High Pressure Liquid / methods*
Cleft Palate / genetics*
DNA Primers
Forkhead Transcription Factors / genetics*
Humans
Mutation*
Polymerase Chain Reaction / methods*
Reproducibility of Results
Sensitivity and Specificity

Substances

DNA Primers
FOXE1 protein, human
Forkhead Transcription Factors