云南省家族性腺瘤性息肉病APC基因胚系突变的研究

摘要

Objective To explore the features of germline mutations of the APC gene in patients with familial adenomatous polyposis in Yunnan. Methods 10 FAP families from Yunnan province were enrolled in this study. The genomic DNA was extracted from the peripheral blood leukocytes of probands from 10 families and the APC gene was screened for germline mutations by using PCR and DNA direct sequencing. Results Among the 10 probands subjected to genetic analysis of the APC gene,mutation was detected in a han race proband,which is the C to A transversion resulting in a stop codon at codon 1196( TCA >TAA;c. 3587 C > A ) within exon 15. Subsequently, among other 8 members from this family, mutation( p. S1196X )was detected in 7 individuals. Conclusion Among patients with familial adenomatous polyposis in Yunnan, the incidence of APC gene mutations was significantly lower than other areas at home and abroad is reported, others factors may exist in FAP patients without APC gene mutation.%目的 研究云南省家族性腺瘤性息肉病(FAP)APC基因胚系突变的特点.方法 收集云南地区10个FAP家系,抽取10例先证者的外周静脉血,提取脱氧核糖核酸(DNA),应用聚合酶链反应(PCR)方法扩增APC基因,应用DNA自动测序仪进行测序.结果 10例FAP先证者中,1例检出APC基因致病突变,此突变存在于APC基因第15外显子上c.3587 C>A(S1196X);随后对检出突变的先证者家系中另外8名成员进行该突变位点筛查,其中7人有突变.结论 云南地区FAP患者APC基因致病突变检出率明显低于国内外报道;未检出APC基因致病突变的FAP患者可能存在其他发病的因素.