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一名非日本患者中的着色性干皮病互补组F

Xeroderma pigmentosum complementation group F in a non-Japanese patient.

作者信息

Norris P G, Hawk J L, Avery J A, Giannelli F

机构信息

Department of Photobiology, St. Thomas' Hospital, London, United Kingdom.

出版信息

J Am Acad Dermatol. 1988 May;18(5 Pt 2):1185-8. doi: 10.1016/s0190-9622(88)70121-8.

Abstract

Genetic complementation studies allowed assignment of a 22-year-old-white woman to the rare complementation group of classic, excision-defective xeroderma pigmentosum (group F cell strain), previously reported only in patients from Japan. She manifested mild cutaneous changes, with no tumors and normal sensitivity to monochromatic ultraviolet irradiation. Unscheduled deoxyribonucleic acid synthesis in cultured fibroblasts (XP126LO) after irradiation with germicidal ultraviolet light was reduced to 13% of control values during the first 2 hours and rose to 45% of normal by 7 to 8 hours.

摘要

基因互补研究将一名22岁的白人女性归入罕见的经典型、切除缺陷型着色性干皮病互补组(F组细胞株),此前仅在日本患者中报道过。她表现出轻微的皮肤变化,无肿瘤,对单色紫外线照射敏感性正常。杀菌紫外线照射后,培养的成纤维细胞(XP126LO)中的非预定脱氧核糖核酸合成在前2小时降至对照值的13%,到7至8小时升至正常水平的45%。

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