局解手术学杂志2017，Vol.26Issue(4)：248-251,4.DOI:10.11659/jjssx.01E017008
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
摘要
Abstract
Objective To detect the mutation of STK11 in a family with Peutz-Jeghers syndrome.Methods Genomic DNA was extracted from peripheral blood and harmatoma polypus of all the patients,and 9 exons and noncoding regions of STK11 were amplified by PCR.Cycle 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 codon CAG in exon 5 of STK11 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.关键词
黑斑息肉综合征/STK11基因/截短突变Key words
Peutz-Jeghers syndrome/STK11 gene/truncated mutation分类
医药卫生引用本文复制引用
王涛,钟敦璟,宁琳洪,覃勇,郭红..黑斑息肉综合征一家系中STK11基因突变研究[J].局解手术学杂志,2017,26(4):248-251,4.基金项目
重庆市自然科学基金(CSTC,2009BB5162) （CSTC,2009BB5162）
