title: [Mutation analysis of keratin 5 and keratin 14 genes in a family with epidermolysis bullosa simplex with mottled pigmentation].
abstract: OBJECTIVE
  To identify keratin 5 (K5) and keratin 14 (K14) gene mutations in a family affected with epidermolysis bullosa simplex with mottled pigmentation.
  
  
  METHODS
  Genomic DNA was extracted from peripheral blood samples obtained from eleven patients from the family and controls. All the exons of K5 and K14 genes were amplified using polymerase chain reaction (PCR) and directly sequenced.
  
  
  RESULTS
  By DNA sequence analysis, a missense mutation in K5 gene (c.237C>T) was detected. The same mutation was not found in non-affected members from the family and normal controls.
  
  
  CONCLUSIONS
  Mutation in K5 gene (c.237C>T) may be responsible for the development of disease in this family.
authors.affiliation: Ningxia Medical University, Yinchuan, Ningxia, People's Republic of China.
authors.forename: Xia
authors.initials: X
authors.lastname: Liu
authors.forename: Li
authors.initials: L
authors.lastname: Xia
authors.forename: Jing-xia
authors.initials: JX
authors.lastname: Wang
authors.forename: Yan-jie
authors.initials: YJ
authors.lastname: Hao
authors.forename: Jing
authors.initials: J
authors.lastname: Yang
authors.forename: Feng-qin
authors.initials: FQ
authors.lastname: Liu
authors.forename: Rui
authors.initials: R
authors.lastname: Guo
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000473:pathology; D005091:Exons; D005260:Female; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics* / Q000473:pathology; D053547:Keratin-14 / Q000235:genetics*; D053555:Keratin-5 / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: D053547:Keratin-14; D053555:Keratin-5