Xeroderma pigmentosum complementation group E: a case report. 1986

A Kawada, and Y Satoh, and Y Fujiwara

A 5-year-old female Japanese patient with mild symptoms of xeroderma pigmentosum (XP), XP7OTO, was assigned to complementation group E following cell hybridization. XP7OTO showed lowered minimal erythema doses compared with those of normal Japanese and XP group A subjects at 290 and 300 nm of monochromatic ultraviolet (UV) light. The delayed peak reaction of UV erythema was characteristically observed in this particular group E patient. 254 nm UV-induced unscheduled DNA synthesis of XP7OTO skin fibroblasts was reduced to a level of 55% of normal. XP7OTO cells exhibited a twice higher sensitivity to 254 nm UV killing (n (extrapolation number) = 1.2, Do (mean lethal dose) = 2.2 J/m2) than did normal cells (n = 1.5, Do = 5.0 J/m2). The patient has, as yet, developed neither skin malignancies nor neurological abnormalities.

UI MeSH Term Description Entries
D002478 Cells, Cultured Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others. Cultured Cells,Cell, Cultured,Cultured Cell
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D003114 Colony-Forming Units Assay A cytologic technique for measuring the functional capacity of stem cells by assaying their activity. Clonogenic Cell Assay,Stem Cell Assay,Clonogenic Cell Assays,Colony Forming Units Assays,Colony-Forming Units Assays,Stem Cell Assays,Assay, Clonogenic Cell,Assay, Colony-Forming Units,Assay, Stem Cell,Assays, Clonogenic Cell,Assays, Colony-Forming Units,Assays, Stem Cell,Colony Forming Units Assay
D004260 DNA Repair The removal of DNA LESIONS and/or restoration of intact DNA strands without BASE PAIR MISMATCHES, intrastrand or interstrand crosslinks, or discontinuities in the DNA sugar-phosphate backbones. DNA Damage Response
D005260 Female Females
D005347 Fibroblasts Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. Fibroblast
D005816 Genetic Complementation Test A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell. Allelism Test,Cis Test,Cis-Trans Test,Complementation Test,Trans Test,Allelism Tests,Cis Tests,Cis Trans Test,Cis-Trans Tests,Complementation Test, Genetic,Complementation Tests,Complementation Tests, Genetic,Genetic Complementation Tests,Trans Tests
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014466 Ultraviolet Rays That portion of the electromagnetic spectrum immediately below the visible range and extending into the x-ray frequencies. The longer wavelengths (near-UV or biotic or vital rays) are necessary for the endogenous synthesis of vitamin D and are also called antirachitic rays; the shorter, ionizing wavelengths (far-UV or abiotic or extravital rays) are viricidal, bactericidal, mutagenic, and carcinogenic and are used as disinfectants. Actinic Rays,Black Light, Ultraviolet,UV Light,UV Radiation,Ultra-Violet Rays,Ultraviolet Light,Ultraviolet Radiation,Actinic Ray,Light, UV,Light, Ultraviolet,Radiation, UV,Radiation, Ultraviolet,Ray, Actinic,Ray, Ultra-Violet,Ray, Ultraviolet,Ultra Violet Rays,Ultra-Violet Ray,Ultraviolet Black Light,Ultraviolet Black Lights,Ultraviolet Radiations,Ultraviolet Ray
D014983 Xeroderma Pigmentosum A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA. Kaposi Disease,Kaposi's Disease,Kaposis Disease

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