CAJ | 학술논문

目的探讨Peutz-Jeghers综合征(PJS)STK11基因突变情况,为该病基因诊断及遗传咨询提供依据.方法收集PJS 1个家系(2例患者)及l例散发病例,3例患者均有典型的皮肤黏膜黑褐斑和消化道多发息肉,提取PJS家系中2例患者、6名健康亲属及1例散发病例、100例健康对照的外周血基因组DNA,PCR扩增STK11基因的9个外显子及临近的内含子,对PCR结果进行DNA直接测序,测序结果与基因库中的STK11基因序列进行比对.结果家系中2例患者及1例散发患者STK11基因的9个外显子及临近内含子所有碱基未发现任何突变,家系中健康亲属及100例健康对照的STK 11基因未发现突变.结论 PJS存在遗传异质性,可能存在新的位点和致病基因.
목적 탐토Peutz-Jeghers종합정(PJS)STK11기인돌변정황,위해병기인진단급유전자순제공의거.방법 수집PJS 1개가계(2례환자)급l례산발병례,3례환자균유전형적피부점막흑갈반화소화도다발식육,제취PJS가계중2례환자、6명건강친속급1례산발병례、100례건강대조적외주혈기인조DNA,PCR확증STK11기인적9개외현자급림근적내함자,대PCR결과진행DNA직접측서,측서결과여기인고중적STK11기인서렬진행비대.결과 가계중2례환자급1례산발환자STK11기인적9개외현자급림근내함자소유감기미발현임하돌변,가계중건강친속급100례건강대조적STK 11기인미발현돌변.결론 PJS존재유전이질성,가능존재신적위점화치병기인.
Objective To study the mutation of STK11 gene in a Chinese family and a sporadic patient with Peutz-Jeghers syndrome (PJS),and to provide a basis for genetic diagnosis and counseling.Methods One sporadic patient and two patients from a family with PJS were collected,all of whom had typical mucosal pigmentation and gastrointestinal polyposis.Blood samples were obtained from the two patients and six unaffected relatives in this family,the sporadic patient,and 100 healthy controls.DNA was extracted,and PCR was performed to amplify nine exons and their adjacent introns in the STK11 gene followed by direct sequencing.The sequencing results were aligned to the published sequence of STK11 gene from Genbank.Results No mutation was found in the STK11 gene of any of the patients,unaffected relatives,or healthy controls.Conclusions Genetic heterogeneity exists in Peutz-Jeghers syndrome,hinting that there may be other causative genes or sites for this entity.