title: [Coding-sequence point mutation and polymorphism analyses of SIP1 gene in Hirschsprung disease].
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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).
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Shengjing Affiliated Hospital, China Medical University, Shenyang, Liaoning, 110004 People's Republic of China.
authors.forename: Hong
authors.initials: H
authors.lastname: Gao
authors.forename: Xin-fang
authors.initials: XF
authors.lastname: Li
authors.forename: Zhi-bo
authors.initials: ZB
authors.lastname: Zhang
authors.forename: Wei-lin
authors.initials: WL
authors.lastname: Wang
authors.forename: Ying
authors.initials: Y
authors.lastname: Huang
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D016601:RNA-Binding Proteins / Q000235:genetics*
chemical_list: C108381:GEMIN2 protein, human; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins