家族性腺瘤性息肉病家系成员APC基因胚系突变分析

目的分析家族性腺瘤性息肉病(familial adenomatous polyposis pedigree,FAP)一家系成员结肠腺瘤性息肉病(aenomatous polyposis coli,APC)基因突变类型。方法对本区一家系3代9人抽取静脉血试剂盒提取白细胞DNA,应用聚合酶链反应(Polymerase chainreaction,PCR)方法扩增APC全基因,制备DNA测序的模板,用DNA自动测序仪进行测序,并利用生物信息学方法进行分析。结果9名家族性腺瘤性息肉病家系成员结果一致,共检出2类APC基因突变类型,无意义突变:1493(ACG>ACA)、1756(TCT>TCG)和错义突变:1822(GTC>GAC)。结论9名家系成员具有一致的APC基因突变类型组合,这种组合可能是引起该家系临床表型的原因。

A Study on Germline APC Gene Mutation in a Familial Adenomatous Polyposis Pedigree

Objective To analysis germline APC gene mutations in a familial adenomatous polyposis pedigree.Methods chromosome DNA was extracted from blood of nine family members by DNA extract kit.DNA sequencing template was prepared by using PCR.DNA sequencing was performed on an automatic sequencer(ABI PRISM 37796) and the results was analyzed by bio-informatics technology.Results 2 types of APC gene mutations were identified,namely,codon1493(ACG>ACA) and codon1756(TCT>TCG) were nonsense mutation;codon1822(GTC>GAC) was misssense mutation.Conclusion Nine family members had coincident gene mutation types and this condition perhaps was the reason that caused FAP phenotype.