title: Molecular studies of Japanese patients with group A xeroderma pigmentosum using polymerase chain reaction and restriction fragment length polymorphism and nonradioactive single strand conformation polymorphism analyses.
abstract: Xeroderma pigmentosum is an autosomal recessive disease characterized by extreme sensitivity of the skin to ultraviolet light, which results in a high incidence of early skin cancer. We report here the molecular analysis of the xeroderma pigmentosum group A complementing genes of five Japanese patients with group A xeroderma pigmentosum and their families, by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis, and by PCR and non-radioactive single strand conformation polymorphism (SSCP) analysis using the Pharmacia PhastSystem. Four of the five patients were found to be homozygous for a known splicing mutation of intron 3. One patient was found to be heterozygous for the splicing mutation of intron 3 and a known nonsense mutation of exon 6. This nonradioactive PCR-SSCP technique was as useful for the molecular diagnosis of patients with group A xeroderma pigmentosum as was PCR-RFLP analysis.
authors: Department of Pediatrics, National Yakumo Hospital, Hokkaido, Japan.
authors: S
authors: S
authors: Sumitani
authors: Y
authors: Y
authors: Ishikawa
authors: Y
authors: Y
authors: Ishikawa
authors: R
authors: R
authors: Minami
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007564:Japan; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D014983:Xeroderma Pigmentosum / Q000175:diagnosis / Q000235:genetics*