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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 detect the pathogenic mutation of STK11 gene in a pedigree of hyperpigmentation-polyposis syndrome (PJS). Methods The clinical data of one PJS pedigree were collected and peripheral blood samples were collected from 2 patients and their family members of PJS pedigree. The DNA of peripheral blood leucocytes was extracted. The STK11 gene of PJS family members was amplified by polymerase chain reaction Exons, and direct sequencing. Results A novel missense mutation C.908T> G (p.I303S) was found in exon 7 of STK11 gene in PJS pedigree patients. No mutation was found in healthy controls and 100 unrelated controls. Conclusion The mutation of STK11 gene is the main cause of PJS. The new missense mutation C.908T> G (p.I303S) in exon 7 is the reason of the corresponding clinical pathological changes in this pedigree.