Abstract
Background
Hirschsprung disease (HSCR, Online Mendelian Inheritance in Man 142623) is a typical
developmental disorder of the enteric nervous system in which ganglion cells fail
to innervate the lower gastrointestinal tract during embryonic development. SOX10 gene is involved in the normal development of the enteric nervous system. Heterozygous
SOX10 mutations have been identified in patients with syndromic HSCR. However, no mutations
have been reported to date to be associated to isolated HSCR patient. We thus sought
to investigate whether mutations in the SOX10 are associated with isolated HSCR in the Chinese population.
Methods
Polymerase chain reaction amplification and direct sequencing were used to screen
4 exons of the SOX10 gene for mutations and polymorphisms in 104 patients with sporadic HSCR and 96 ethnically
matched controls in Han Chinese populations.
Results
In this study, 4 single nucleotide polymorphisms (SNPs) were identified: SNP1: c.18C>T
(GAC→GAT) in exon 2; SNP2: c.122G>T (GGC→GTC) in exon 2; SNP3: IVS2+10 (C→G) in intron
2; and SNP4: c.927T>C (CAT→CAC) in exon 4. SNP1 and SNP2 were novel described polymorphisms
in the Chinese population. No SOX10 mutations were found in Han Chinese with isolated HSCR.
Conclusions
Our results revealed that there was no association between the 4 SNPs of the SOX10 gene and HSCR. This study showed that the SOX10 gene is unlikely to be a major HSCR gene in the Chinese Han population.
Key words
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Article info
Publication history
Accepted:
May 16,
2011
Received in revised form:
May 16,
2011
Received:
December 20,
2010
Identification
Copyright
© 2011 Published by Elsevier Inc.
