色素沉着-息肉综合征1家系的STK11基因突变检测

Study on the Mutation of STK11 Gene in a Family with Peutz-Jeghers Syndrome

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.908T>G(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.908T>G(p.I303S)是该家系发生相应临床病变的原因。

Objective To identify pathogenic mutation of the STK11 gene in a pedigreeofPeutz-Jeghers Syndrome（PJS）.Methods We collected blood samples and clinical data from the pedigree of PJS. Genomic DNAwas extracted from peripheral blood. All exons of STK11 gene were analyzed with polymerase chain reaction and DNA sequencing to detect mutation in the proband of the pedigree of PJS. Results A novel missensemutationC.908T〉G（p.I303S）in exon 7 of STK11 gene from the PJS family was present. The mutation was not found in the healthy members of this pedigree and 100 unrelated control individuals.Conclusion Mutations of STK11 gene is a major cause of Peutz-Jeghers syndrome. The novel missense mutation in exon 7 of STK11 gene is the underlying cause of the familialC.908T〉G（p.I303S）.