中华皮肤科杂志 ›› 2010, Vol. 43 ›› Issue (4): 263-265.

• 论著 • 上一篇    下一篇

Peutz-Jeghers综合征STK11基因突变研究

康晓静1,田艳2,高峰3,张德志4,吴秀娟5,普雄明6   

  1. 1. 乌鲁木齐市 新疆维吾尔自治区人民医院皮肤科
    2. 新疆医科大学
    3.
    4. 新疆维吾尔自治区人民医院
    5. 新疆维吾尔自治区人民医院皮肤性病科
    6. 乌鲁木齐市新疆维吾尔自治区人民医院皮肤科
  • 收稿日期:2009-06-12 修回日期:2009-07-16 出版日期:2010-04-15 发布日期:2010-04-07
  • 通讯作者: 康晓静 E-mail:drkangxj666@yahoo.com.cn
  • 基金资助:

    新疆维吾尔自治区重点科技攻关项目资助

Mutation analysis of STK11 gene in patients with Peutz-Jeghers syndrome （PJS）

  • Received:2009-06-12 Revised:2009-07-16 Online:2010-04-15 Published:2010-04-07

PDF

358

赞

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STK11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。

关键词: 【关键词】 Peutz-Jeghers 综合征，STK11基因，突变

Abstract:

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 samples 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 STK11 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 STK11 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.

Key words: 【Keywords】 Peutz-Jeghers syndrome(PJS), STK11 gene, Mutation