摘要
目的检测先天性巨结肠症（Hirschspnmg disease, HSCR）患者 SIP1 （Smad-interacting protein 1 ）基因编码区点突变及单核苷酸多态性特点，探讨SIP1基因与HSCR的关系。方法应用聚合酶链反应一单链构像多态性（polymerase chain reaction-single strand conformation polymorphism, PCR-SSCP）
和DNA直接测序技术，对50例HSCR、30名正常对照外周血SIPI基因编码区的10个外显子，进行点突变与单核苷酸多态性的检测与分析。结果HSCR与正常对照突变图谱比较，有1例病例在第7外显子出现杂合性缺失，密码子157位点GTG→GTA置换，引起亮氨酸的同义突变，属于单核苷酸多态性，突变率为2％（1／50）。有4例患者在第8外显子出现突变，突变率为8％（4／50）。PCR-SSCP银染分析，第2外显子2例出现相同类型泳动变位；第7外显子3例出现相同类型泳动变位；第8外显子7例出现相同类型泳动变位。结论HSCR有SIPI基因突变，提示SIPI基因与HSCR的发病存在一定程度的关联。
Objective To investigate the point mutations and polymorphisms of SIP1 gene in Hirschsprang 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 heterozygusity 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 eases, and exon 8 in seven patients. Conclusion 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.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2008年第1期82-85,共4页
Chinese Journal of Medical Genetics
基金
国家自然科学基金（30772277）
关键词
先天性巨结肠症
SIP1基因
点突变
遗传多态性
Hirschsprung disease
Smad-intemcting protein 1 gene
point mutation
genetic polymorphism
