CAJ | 학술논문

目的对黑斑息肉综合征一家系的STK-11基因突变进行检测.方法 PCR扩增此家系的患者和健康人的STK-11基因的全部外显子,并测序寻找致病突变,选取100例健康人作为对照.结果该家系患者STK-11基因外显子9的第1251位发生G/T杂合突变.家系中健康对照个体和健康对照中均未发现相应突变.结论错义突变A417S可能影响基因转录和翻译产物,是STK-11基因新的特异性突变.
목적 대흑반식육종합정일가계적STK-11기인돌변진행검측.방법 PCR확증차가계적환자화건강인적STK-11기인적전부외현자,병측서심조치병돌변,선취100례건강인작위대조.결과 해가계환자STK-11기인외현자9적제1251위발생G/T잡합돌변.가계중건강대조개체화건강대조중균미발현상응돌변.결론 착의돌변A417S가능영향기인전록화번역산물,시STK-11기인신적특이성돌변.
Objective To detect mutations in the STK-11 gene in a pedigree with Peutz-Jeghers syndrome (PJS).Methods Blood samples were collected from a 19-year-old male patient with PJS and his unaffected mother,as well as from 100 unrelated healthy human controls.PCR was performed to amplify all the exons of the STK-11 gene followed by sequencing.Results A novel heterozygous missense mutation (G-to-T transition) was identified at position 1251 in the exon 9 of the STK-11 gene in the patient,but not in his mother or the unrelated healthy human controls.Conclusions The missense mutation A417S,which may affect gene transcription and translation,is a specific novel mutation of STK-11 gene.