家族性腺瘤性息肉病患者APC基因胚系突变的初步研究

目的:探讨国人家族性腺瘤性息肉病(FAP)患者APC基因胚系突变的特点.方法:对我院2004年3月至2005年3月收治的6例FAP患者运用PCR变性高效液相色谱技术检测APC基因,对可疑突变者进行测序.结果:变性高效液相色谱检测共发现3个可疑突变片段,经DNA测序证实3个片段均存在突变.其中,15号外显子2例,14号内含子1例.结论:国人FAP患者相同基因型APC基因突变可有不同表现型.

Germline APC gene mutation in patients with familial adenomatous polyposis:a preliminary study

Objective:To explore the characteristics of germline APC gene mutations in Chinese patients with familial adenomatous polyposis(FAP).Methods: Six FAP patients(March 2004 to March 2005) were screened for germline mutation of APC gene by PCR-denaturing high-performance liquid chromatography and direct sequencing.Results: Mutations were identified in 3 patients from 6 unrelated families.The first and second mutation was at codon 1 509,resulting in an amino acid change from Arginine to Glutamine;the third mutation involved four-base-pairs insertion in the sequence of AGAA at intron 14.Conclusion: Chinese FAP patients with same APC genotype mutation may have different phenotypes.