title: High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia.
abstract: Xeroderma pigmentosum (XP) patients in Tunisia who belong to the genetic complementation group A (XPA) have milder skin symptoms than do Japanese XPA patients. Such difference in the clinical features might be caused by the difference in the site of mutation in the XP A-complementing (XPAC) gene. The purpose of this study is to identify the genetic alterations in the XPAC gene in the Tunisian XPA patients and to investigate the relationship between the clinical symptoms and the genetic alterations. Three sites of mutation in the XPAC gene have been identified in the Japanese XPA patients, and about 85% of them have a G-->C point mutation at the splicing acceptor site of intron 3. We found that six (86%) of seven Tunisian XPA patients had a nonsense mutation in codon 228 in exon 6, because of a CGA-->TGA point mutation, which can be detected by the HphI RFLP. This type of mutation is the same as those found in two Japanese XPA patients with mild clinical symptoms. Milder skin symptoms in the XPA patients in Tunisia than in those in Japan, despite mostly sunny weather and the unsatisfactory sun protection in Tunisia, should be due to the difference in the mutation site.
authors.affiliation: Department of Dermatology, Faculty of Medicine, Kyoto University, Japan.
authors.forename: C
authors.initials: C
authors.lastname: Nishigori
authors.forename: M
authors.initials: M
authors.lastname: Zghal
authors.forename: T
authors.initials: T
authors.lastname: Yagi
authors.forename: S
authors.initials: S
authors.lastname: Imamura
authors.forename: M R
authors.initials: MR
authors.lastname: Komoun
authors.forename: H
authors.initials: H
authors.lastname: Takebe
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002478:Cells, Cultured; D002648:Child; D017931:DNA Primers; D004260:DNA Repair; D005091:Exons; D005816:Genetic Complementation Test; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D015995:Prevalence; D014416:Tunisia; D014983:Xeroderma Pigmentosum / Q000235:genetics* / Q000503:physiopathology
chemical_list: D017931:DNA Primers