本文選題：色素沉著-息肉綜合征 + STK基因　； 參考：《中國皮膚性病學雜志》2017年07期

【摘要】：目的檢測1個色素沉著-息肉綜合征(PJS)家系的STK11基因的致病性突變。方法收集1個PJS家系臨床資料,采集PJS家系2例患者及其家庭成員的外周血標本,提取外周血白細胞中的DNA,采用聚合酶鏈反應法擴增PJS家系先證者的STK11基因的全部外顯子,并直接測序。結果 PJS家系患者STK11基因7號外顯子發(fā)現(xiàn)一個新錯義突變C.908TG(p.I303S),家系中健康對照個體和100例無親緣關系的正常對照均未發(fā)現(xiàn)相應突變。結論 STK11基因突變是PJS發(fā)病的主要原因,第7號外顯子的新錯義突變C.908TG(p.I303S)是該家系發(fā)生相應臨床病變的原因。
[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.
【作者單位】： 川北醫(yī)學院附屬醫(yī)院皮膚科;
【基金】：四川省教育廳自然科學基金(09ZC047)
【分類號】：R596;R758.5

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