title: Detection of UV-induced K-ras codon 12 mutation by PCR and differential dot-blot hybridization in cells from Down syndrome and Cockayne syndrome.
abstract: By means of the polymerase chain reaction (PCR) and differential dot-blot hybridization, base substitution mutations of K-ras codon 12 were investigated in skin fibroblast cells from Down syndrome (DS) patients. Mutations were identified in DS cells after UV irradiation, predominantly in cells from younger patients. In contrast, no mutation was detected in cells from Cockayne syndrome (CS) patients who had the same features of premature aging as in DS but were not prone to cancer. This association of DS cells, but not CS cells, with inducibility of the K-ras codon 12 mutation may imply the proneness of DS patients to cancer development but a lack of proneness of CS patients.
authors.affiliation: Department of Biochemistry 2nd, School of Medicine, Chiba University, Chuo-ku, Chiba 260-8670, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Sugita
authors.forename: N
authors.initials: N
authors.lastname: Suzuki
authors.forename: K
authors.initials: K
authors.lastname: Ohno
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: J I
authors.initials: JI
authors.lastname: Takanashi
authors.forename: K
authors.initials: K
authors.lastname: Kita
authors.forename: H
authors.initials: H
authors.lastname: Yamamori
authors.forename: N
authors.initials: N
authors.lastname: Nakajima
mesh_terms: D000375:Aging / Q000235:genetics; D019588:Aging, Premature / Q000235:genetics*; D019943:Amino Acid Substitution; D002478:Cells, Cultured; D003057:Cockayne Syndrome / Q000235:genetics* / Q000473:pathology; D003062:Codon / Q000528:radiation effects*; D004252:DNA Mutational Analysis; D004314:Down Syndrome / Q000235:genetics* / Q000473:pathology; D005347:Fibroblasts / Q000737:chemistry / Q000648:ultrastructure; D011905:Genes, ras / Q000528:radiation effects*; D006801:Humans; D009693:Nucleic Acid Hybridization; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D014466:Ultraviolet Rays
chemical_list: D003062:Codon