摘要
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PJS1个家系（2例患者）及1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STK11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。
Objective To study the mutation of STKll 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 STKll 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.
出处
《中华皮肤科杂志》
CAS
CSCD
北大核心
2014年第1期42-44,共3页
Chinese Journal of Dermatology
基金
基金项目：青岛市卫生科技计划（2010-ws20011）
