title: Analysis of c-kit exon 11 and exon 17 of urticaria pigmentosa that occurred in monozygotic twin sisters.
abstract: Genomic DNA extracted from peripheral blood mononuclear cells of monozygotic twin patients with urticaria pigmentosa was investigated for mutations of proto-oncogene c-kit. Neither the patients nor their families had genomic mutations in exon 11 or exon 17 of c-kit. The patients did not have any systemic involvement or bone marrow abnormalities. There are indications that some genetic factors may participate in the pathogenesis of urticaria pigmentosa in monozygotic twins. In the present patients, factors other than genomic faults in exon 11 and exon 17 of c-kit may be responsible for the pathogenesis.
authors.affiliation: Department of Dermatology, Hokkaido University School of Medicine, Sapporo, Japan.
authors.forename: K C
authors.initials: KC
authors.lastname: Sato-Matsumura
authors.forename: T
authors.initials: T
authors.lastname: Matsumura
authors.forename: H
authors.initials: H
authors.lastname: Koizumi
authors.forename: H
authors.initials: H
authors.lastname: Sato
authors.forename: K
authors.initials: K
authors.lastname: Nagashima
authors.forename: A
authors.initials: A
authors.lastname: Ohkawara
mesh_terms: D000328:Adult; D004200:Diseases in Twins / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D009154:Mutation; D000090063:Proto-Oncogene Mas; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014430:Twins, Monozygotic; D014582:Urticaria Pigmentosa / Q000235:genetics*
chemical_list: C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D019009:Proto-Oncogene Proteins c-kit