黑斑息肉综合征一家系中STK11基因突变研究

A novel mutation of the STK11 gene in a family with Peutz-Jeghers syndrome

目的检测一个黑斑息肉综合征(PJS)家族的STK11基因突变类型。方法从PJS患者外周血及息肉组织中提取基因组DNA;采用PCR分别扩增STK11基因的9个外显子及非编码区域;采用直接测序法检测DNA序列;采用Western blot检测息肉组织中突变STK11蛋白表达情况。结果该家族中所有PJS患者在STK11基因第5个外显子21位密码子CAG突变为TAG,并编码截短了的STK11蛋白。结论 STK11基因第5个外显子21位密码子CAG突变为TAG是导致该家族PJS发病的原因,可作为该家族中预诊断PJS的指标,同时该突变也可能导致患者恶性肿瘤发生概率增加以及早期发病,提示PJS患者预后不良。

Objective To detect the mutation of STK11 in a family with Peutz-Jeghers syndrome. Methods Genomic DNA was extrac- ted from peripheral blood and harmatoma polypus of all the patients, and 9 exons and noncoding regions of STK11 were amplified by PCR. Cy- cle sequencing was used to analysis the DNA sequence, and western blot was used to detected the mutational STK11 protein in the harmatoma polypus. Results The 21th eodon CAG in exon 5 of STKll gene transformed to TAG in all the patients,which translated into a truncated STK11 protein. Conclusion This novel mutation is the pathogeny of PJS in this family,which could be an indicator for the diagnosis of PJS in this family. And it may lead to a higher risk of cancer in patients.