FOXE1 gene mutation screening by multiplex PCR/DHPLC in CHARGE syndrome and syndromic and non-syndromic cleft palate
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- 作者：Mario Venza ; Maria Visalli ; Isabella Venza ; Claudia Torino ; Rita Saladino and Diana Teti
- 关键词：FOXE1 gene ; Multiplex PCR/DHPLC ; Sequence variant analysis ; Oral clefting
- 刊名：Journal of Chromatography B, Analytical Technologies in the Biomedical and Life Sciences
- 出版年：2006
- 出版时间：19 May 2006
- 年：2006
- 卷：836
- 期：1-2
- 页码：39-46
- 全文大小：232 K
文摘
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.