Coding-sequence point mutation and polymorphism analyses of SIP1 gene in Hirschsprung disease / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the point mutations and polymorphisms of SIP1 gene in Hirschsprung disease(HSCR) and discuss the relationship between the feature of gene mutations and single nucleotide polymorphisms of SIP1 gene and HSCR.</p><p><b>METHODS</b>Polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP)and DNA direct sequencing were performed in 50 HSCR cases and 30 normal controls. All 10 exons of SIP1 gene were analyzed for point mutations and single nucleotide polymorphisms (SNPs).</p><p><b>RESULTS</b>Loss of heterozygosity was observed in exon 7 in one patient. This variation leads to a nonsense mutation (L157L) and is an SNP. A missense mutation was detected in exon 8 in four patients, the frequency was 8%(4/50). PCR-SSCP was analyzed by silver staining. Identical patterns were observed in exon 2 for two cases, exon 7 for three cases, and exon 8 in seven patients.</p><p><b>CONCLUSION</b>The mutations of SIP1 gene were detected in HSCR. The results suggest that SIP1 gene might play an important role in the pathogenesis of HSCR.</p>