This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Sumitani, S. Articles by Minami, R. Search for Related Content PubMed PubMed Citation Articles by Sumitani, S. Articles by Minami, R. Social Bookmarking                         What's this?

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

Department of Pediatrics, National Yakumo Hospital, Yakumo, Hokkaido, Japan

Yukitoshi Ishikawa, MD, PhD

Department of Pediatrics, National Yakumo Hospital, Yakumo, Hokkaido, Japan

Yuka Ishikawa, MD

Department of Pediatrics, National Yakumo Hospital, Yakumo, Hokkaido, Japan

Ryoji Minami, MD, PhD

Department of Pediatrics, National Yakumo Hospital, Yakumo, Hokkaido, Japan

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 nonradioactive 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. (J Child Neurol 1999;14:168-172).

Journal of Child Neurology, Vol. 14, No. 3, 168-172 (1999)
DOI: 10.1177/088307389901400307


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?