皮肤性病诊疗学杂志Issue(3)：177-180,4.DOI:10.3969/j.issn.1674-8468.2014.03.004
多发性脂囊瘤角蛋白17基因的突变研究
Study on Keratin 17 Gene Mutation in Steatocystoma Multiplex
摘要
Abstract
To investigate the gene mutations in a pedigree with SM, and to provide research background for the genetic diagnosis and the genetic treatment.Methods:Blood samples for extraction of genetic DNA were collected from the patients and their parents, as well as 100 healthy individuals.The exon 1 and 6 of keratin 17 were amplified by polymerase chain reaction ( PCR) from genomic DNA.PCR products were analyzed by direct sequencing.Results:In the two patients of the pedigree with SM, the codon 42 ( CTG ) of K17 gene was mutated as CCG, i.e., substitution of Leucine by Proline, causing missense mutation (L42P) in the V1 domain of keratin 17, which was not found in the normal controls of 100 healthy individuals.Conclusion:The novel mutation ( L42P) in the V1 domain of keratin 17 may cause the changed phenotype in affected members.关键词
K17/基因突变/多发性脂囊瘤Key words
Keratin 17/Gene mutation/Steatocystoma multiplex分类
医药卫生引用本文复制引用
周欣,杨艳,马少吟,田歆,唐亚平,张锡宝..多发性脂囊瘤角蛋白17基因的突变研究[J].皮肤性病诊疗学杂志,2014,(3):177-180,4.基金项目
广州市医药卫生科技项目 （）
