title: [Keratin 17 gene mutation in patients with steatocystoma multiplex].
abstract: OBJECTIVE
  To study the relationship between steatocystoma multiplex (SCM) and keratin 17 gene mutation.
  
  
  METHODS
  The keratin 17 gene mutation in the cDNA of cystic tissue of 5 patients of SCM and in the DNA in peripheral blood of 25 patients with SCM from a SCM family was studied by direct sequencing of the RT-PCR products, nested PCR, and restricted fraction length polymorphism (RFLP) analysis. Thirty-nine blood specimens from the unaffected members of that family were collected and tested too. Ten DNA pool specimens and other 2000 DNA pool specimens of normal individuals outside that SCM family were used as controls.
  
  
  RESULTS
  In the base 428, 94(th) codon in keratin 17 gene in the cDNA of patients' cystic tissue, R94C mutation, a G-->A mutation, was detected Nested PCR, and restricted enzyme Acil polymorphism analysis showed that in the DNA specimens of peripheral blood of patients a mutated allele lacking enzyme cutting locus was detected, thus causing an uncut band with 200 bp while the corresponding allele was cut and caused two bands with 108 bp and 92 bp. In the DNA pool specimens of normal controls only these two bands with 108 bp and 92 bp were observed.
  
  
  CONCLUSIONS
  The R94C mutation in keratin 17 gene is one of the genetic bases of SCM in Chinese. The results of this study provide scientific data for genetic diagnosis and counseling of SCM.
authors.affiliation: Central Laboratory, Affiliated Hospital of Xuzhou Medical College, Xuzhou 221002, China.
authors.forename: X
authors.initials: X
authors.lastname: Wang
authors.forename: Y
authors.initials: Y
authors.lastname: Shi
authors.forename: Y
authors.initials: Y
authors.lastname: Ye
authors.forename: F
authors.initials: F
authors.lastname: Liu
authors.forename: W
authors.initials: W
authors.lastname: Jin
authors.forename: W
authors.initials: W
authors.lastname: Chen
authors.forename: M
authors.initials: M
authors.lastname: Wang
authors.forename: L
authors.initials: L
authors.lastname: Hu
authors.forename: G
authors.initials: G
authors.lastname: Zhao
authors.forename: X
authors.initials: X
authors.lastname: Kong
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D004814:Epidermal Cyst / Q000235:genetics*; D005260:Female; D006801:Humans; D007633:Keratins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D012871:Skin Diseases / Q000235:genetics*
chemical_list: D007633:Keratins