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Non-syndromic cleft palate: analysis of TBX22 exon 5 gene mutation.


ABSTRACT:

Introduction

This study aimed to investigate the mutation of T-box transcription factor TBX22 exon 5 in children with non-syndromic cleft palate. Four mutations in TBX22 exon 5 in X-linked cleft palate with ankyloglossia (CPX) patients had been identified in the previous studies. The study used the syndromic cleft palate susceptibility gene as a candidate gene for more common non-syndromic cleft palate.

Material and methods

A family-based study with parents and their children composing parent-child trios was performed in this research. Twenty children with non-syndromic cleft palate and 38 healthy parents were enrolled. TBX22 exon 5 was examined by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing. The peaks of the sequence diagr

SUBMITTER: Jiang RS 

PROVIDER: S-EPMC3400901 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature