黑斑息肉综合征一家系致病基因的新突变
A novel mutation in the STK-11 gene in a pedigree with Peutz-Jeghers syndrome
牟韵竹 1张正中 1杨浩1
作者信息
- 1. 637000 四川南充,川北医学院附属医院皮肤科
- 折叠
摘要
目的 对黑斑息肉综合征一家系的STK-11基因突变进行检测.方法 PCR扩增此家系的患者和健康人的STK-11基因的全部外显子,并测序寻找致病突变,选取100例健康人作为对照.结果 该家系患者STK-11基因外显子9的第1251位发生G/T杂合突变.家系中健康对照个体和健康对照中均未发现相应突变.结论 错义突变A417S可能影响基因转录和翻译产物,是STK-11基因新的特异性突变.
Abstract
Objective To detect mutations in the STK-11 gene in a pedigree with Peutz-Jeghers syndrome (PJS).Methods Blood samples were collected from a 19-year-old male patient with PJS and his unaffected mother,as well as from 100 unrelated healthy human controls.PCR was performed to amplify all the exons of the STK-11 gene followed by sequencing.Results A novel heterozygous missense mutation (G-to-T transition) was identified at position 1251 in the exon 9 of the STK-11 gene in the patient,but not in his mother or the unrelated healthy human controls.Conclusions The missense mutation A417S,which may affect gene transcription and translation,is a specific novel mutation of STK-11 gene.
关键词
Peutz-Jeghers/综合征/基因,STK-11/突变Key words
Peutz-Jeghers syndrome/Genes, STK-11/Mutation引用本文复制引用
基金项目
四川省教育厅自然科学基金(09ZC047)
出版年
2014
NETL
NSTL
维普
万方数据