Study on Keratin 17 Gene Mutation in Steatocystoma Multiplex
ZHOU Xin
YANG Yan
MA Shao-yin
TIAN Xin
TANG Ya-ping
ZHANG Xi-bao
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.
Keywords：Keratin 17Gene mutationSteatocystoma multiplex
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 177-180 )