色素沉着-息肉综合征1家系的STK11基因突变检测

发布时间：2018-06-05 21:00

本文选题：色素沉着-息肉综合征 + STK基因　；参考：《中国皮肤性病学杂志》2017年07期

【摘要】：目的检测1个色素沉着-息肉综合征(PJS)家系的STK11基因的致病性突变。方法收集1个PJS家系临床资料,采集PJS家系2例患者及其家庭成员的外周血标本,提取外周血白细胞中的DNA,采用聚合酶链反应法扩增PJS家系先证者的STK11基因的全部外显子,并直接测序。结果 PJS家系患者STK11基因7号外显子发现一个新错义突变C.908TG(p.I303S),家系中健康对照个体和100例无亲缘关系的正常对照均未发现相应突变。结论 STK11基因突变是PJS发病的主要原因,第7号外显子的新错义突变C.908TG(p.I303S)是该家系发生相应临床病变的原因。
[Abstract]:Objective to detect the pathogenicity of the STK11 gene in 1 families with pigmented polyp syndrome (PJS). Methods the clinical data of 1 PJS families were collected and the peripheral blood samples from 2 patients and their family members of the PJS family were collected, the DNA in the peripheral blood leukocytes was extracted and the STK11 gene of the PJS family was amplified by polymerase chain reaction. The results showed that a new missense mutation C.908TG (p.I303S) was found in the STK11 gene exon 7 of the PJS family, and no corresponding mutation was found in healthy controls and 100 unrelated normal controls in the family. Conclusion STK11 gene mutation is the main cause of the pathogenesis of PJS, and the new missense mutation of exon seventh, C.908TG (P). .I303S) is the cause of corresponding clinical changes in this family.
【作者单位】：川北医学院附属医院皮肤科;
【基金】：四川省教育厅自然科学基金(09ZC047)
【分类号】：R596;R758.5

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