摘要
目的检测Peutz-Jeghers综合征患者STK11基因编码区序列,进一步明确STK11基因可能存在新的突变位点。方法收集空军总医院2009年1月~2010年10月期间收治的20例Peutz-Jeghers综合征患者的血液样本,采用PCR扩增技术及DNA测序方法检测STK11基因编码区序列,与STK11基因的正常序列比对分析。结果 20例Peutz-Jeghers综合征患者中有14例患者检测到STK11基因的编码区发生突变,1例患者携带2个突变位点,13例患者携带单一突变位点。测序发现1例患者在3号外显子第460位发现一错义突变（460C→G）,在第154密码子处形成另一种新的氨基酸,为一新的突变位点。2个家系中4例患者在同一位点发生突变;同一家系患者的突变位点一致。其余6例患者STK11基因编码区未见突变位点。结论 STK11基因突变是Peutz-Jeghers综合征发生的主要病因,3号外显子第460位错义突变,即460C→G,是导致Peutz-Jeghers综合征发生新的突变位点。
Objective To analyze the sequence of STK11 gene coding region in 20 patients with Peutz-Jeghers syndrome and identify the point mutations in STK11 gene associated with the occurrence of the disease.Methods Blood samples were collected from 20 inpatients with Peutz-Jeghers syndrome treated in our center between January 2009 and October 2010.The sequence of STK11 gene coding region was analyzed using PCR and DNA sequencing and compared with the normal sequence of STK11 gene.Results Of the 20 patients with Peutz-Jeghers syndrome,14 showed STK11 gene mutations in the coding region,including 1 patient having two mutations and 13 patients with a single mutation site.In one case,sequence analysis of the STK11 gene identified a novel type of STK11 germline mutation,in which the cytosine（C）460 was substituted by guanine（G） in exon 3 to result in a new amino acid at codon 154.Four patients from 2 families were found to have a common mutation.The remaining 6 patients were not found to have mutations in STK11 gene coding region.Conclusion Mutations of STK11 gene is a major cause of Peutz-Jeghers syndrome.The missense mutation of 460 C→G in exon 3 of STK11 gene is a novel mutation associated with Peutz-Jeghers syndrome.
出处
《南方医科大学学报》
CAS
CSCD
北大核心
2012年第4期511-514,共4页
Journal of Southern Medical University
基金
国家自然科学基金(81000763)
全军十一五资助项目(06MA032)~~
