Peutz—Jeghers综合征STK11基因突变研究  

Mutation analysis of STKll gene in patients with Peutz-Jeghers syndrome （PJS）

作　　者：康晓静[1] 田艳 高峰[1] 张德志[1] 吴秀娟[1] 普雄明[1] 

机构地区：[1]新疆维吾尔自治区人民医院,乌鲁木齐830001 [2]河北省沧州中西医结合医院

出　　处：《中华皮肤科杂志》2010年第4期263-265,共3页Chinese Journal of Dermatology

基　　金：国家自然科学基金（30660173）;新疆维吾尔自治区重点科技攻关项目（200633129）

摘　　要：目的探讨Peutz—Jeghers综合征2个家系及3例散发病例外周血及息肉组织STK11基因的突变。方法PCR扩增STK11基因前8个外显子及侧翼序列，进行DNA直接测序。结果家系1所有患者息肉组织STK11基因的外显子8检测到1个新杂合突变，第2039位碱基鸟嘌呤被胞嘧啶替代，导致308位氨基酸由色氨酸（W）转变为半胱氨酸（C），即W308C错义突变；外周血未检测到此突变位点。家系1所有患者外周血STKll基因的内含子2第12703碱基检测到1个新突变，该处发生A→G替换突变；息肉组织未检测到此突变位点。家系2所有患者外周血STK11基因的内含子7第16215碱基存在G→C杂合突变，已被前人证实为SNP。3例散发病例中未检测到突变位点。结论STK11基因G2039C突变可能是部分Peutz—Jeghers综合征患者发病的遗传基础。Objective To detect mutations of STK11 gene in peripheral blood and hamartomatous gastrointestinal polypi of 2 pedigrees and 3 sporadic patients with PJS. Methods Blood samples were obtained from some members in the 2 pedigrees, 3 sporadic patients, and 100 normal human controls, and tissue sampies from gastrointestinal polypi of 2 patients in pedigree 1 and 100 patients with non-PJS diseases. DNA was extracted from these samples and subjected to PCR for the amplification of 8 upstream exons and flanking sequences of STK11 gene. DNA sequencing was performed. Results There was a new heterozygous mutation, 2039 G→C, which leaded to the substitution of tryptophan by cysteine at codon 308, in exon 8 of STK11 gene in gastrointestinal polyp tissue, but not in peripheral blood, of the 2 patients in pedigree 1. A transition mutation （12703A→G） was detected in intron 2 of STKll gene in peripheral blood, but not in gastrointestinal polyp tissue, from the 2 patients in pedigree 1. In peripheral blood from the patients of pedigree 2, a reported SNP （16215 G/C） was detected in intron 7 of STKll gene. No mutation was detected in any of the 3 sporadic patients. Conclusion A new STK11 gene mutation, G2039C, is found in a Chinese PJS pedigree, which may be involved in the genetic basis of PJS.

关 键 词：Peutz—Jeghers综合征 基因 STK11 突变 

分 类 号：R596[医药卫生—内科学]