A novel mutation in the STK-11 gene in a pedigree with Peutz-Jeghers syndrome
10.3760/cma.j.issn.0412-4030.2014.10.021
- VernacularTitle:黑斑息肉综合征一家系致病基因的新突变
- Author:
Yunzhu MU
;
Zhengzhong ZHANG
;
Hao YANG
- Publication Type:Journal Article
- Keywords:
Peutz-Jeghers syndrome;
Genes,STK-11;
Mutation
- From:
Chinese Journal of Dermatology
2014;47(10):744-746
- CountryChina
- Language:Chinese
-
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.
