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着色性干皮病E互补组:一例报告

Xeroderma pigmentosum complementation group E: a case report.

作者信息

Kawada A, Satoh Y, Fujiwara Y

出版信息

Photodermatol. 1986 Aug;3(4):233-8.

PMID:3774595
Abstract

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.

摘要

一名患有轻度着色性干皮病(XP)的5岁日本女性患者XP7OTO,在细胞杂交后被归为互补组E。与正常日本人和XP A组受试者相比,XP7OTO在290和300nm单色紫外线(UV)照射下的最小红斑剂量降低。在这个特定的E组患者中,紫外线红斑的延迟峰值反应具有特征性。254nm紫外线诱导的XP7OTO皮肤成纤维细胞的非预定DNA合成降低至正常水平的55%。XP7OTO细胞对254nm紫外线杀伤的敏感性(n(外推数)=1.2,Do(平均致死剂量)=2.2J/m2)是正常细胞(n=1.5,Do=5.0J/m2)的两倍。该患者尚未发生皮肤恶性肿瘤或神经异常。

相似文献

1
Xeroderma pigmentosum complementation group E: a case report.着色性干皮病E互补组:一例报告
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2
Late onset of skin cancers in 2 xeroderma pigmentosum group F siblings and a review of 30 Japanese xeroderma pigmentosum patients in groups D, E and F.2例着色性干皮病F组同胞患皮肤癌的迟发情况及对30例D、E和F组日本着色性干皮病患者的综述
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No apparent neurologic defect in a patient with xeroderma pigmentosum complementation group D.
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Different sensitivities to ultraviolet light-induced cytotoxicity and sister chromatid exchanges in xeroderma pigmentosum and Bloom's syndrome fibroblasts.着色性干皮病和布卢姆综合征成纤维细胞对紫外线诱导的细胞毒性和姐妹染色单体交换的不同敏感性。
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Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
UVSSA 基因突变导致 UV 敏感综合征,并在转录偶联核苷酸切除修复中损害 RNA 聚合酶 IIo 的加工。
Nat Genet. 2012 May;44(5):586-92. doi: 10.1038/ng.2229.
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No lack of complementation for unscheduled DNA synthesis between xeroderma pigmentosum complementation groups D and H.着色性干皮病互补组D和H之间在非预定DNA合成方面不存在互补缺陷。
Hum Genet. 1989 Dec;84(1):99-101. doi: 10.1007/BF00210685.