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[光敏作用与DNA修复。着色性干皮病和科凯恩综合征之间可能的疾病关系]

[Photosensitization and DNA repair. Possible nosologic relationship between Xeroderma pigmentosum and Cockayne's syndrome].

作者信息

Lafforet D, Dupuy J M

出版信息

Arch Fr Pediatr. 1978 Dec;35(10 Suppl):65-74.

PMID:749755
Abstract

UV-sensitivity is a common feature of several diseases including Xeroderma pigmentosum (XP), Cockayne syndrome (CS) and Bloom syndrome (BS). In 12 children with such diseases, cell viability and DNA repair following UV-irradiation as well as PHA transformation of lymphocytes were studied. In 5 of 6 XP cases, in 1 child with CS and in 1 of 2 children with BS, DNA repair and PHA transformation of lymphocytes showed extremely depressed values. A similar study was performed in 2 children with a rare association of XP and CS. Results suggest a relationship between these 2 diseases

摘要

紫外线敏感性是多种疾病的常见特征，包括着色性干皮病（XP）、科凯恩综合征（CS）和布卢姆综合征（BS）。对12名患有此类疾病的儿童进行了研究，检测了紫外线照射后的细胞活力、DNA修复情况以及淋巴细胞的PHA转化能力。在6例XP患者中的5例、1例CS患儿以及2例BS患儿中的1例中，淋巴细胞的DNA修复和PHA转化能力表现出极低的值。对2例患有罕见的XP与CS联合病症的儿童进行了类似研究。结果表明这两种疾病之间存在关联。

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1
[Photosensitization and DNA repair. Possible nosologic relationship between Xeroderma pigmentosum and Cockayne's syndrome].[光敏作用与DNA修复。着色性干皮病和科凯恩综合征之间可能的疾病关系]
Arch Fr Pediatr. 1978 Dec;35(10 Suppl):65-74.
2
Xeroderma pigmentosum group E and DDB2, a smaller subunit of damage-specific DNA binding protein: proposed classification of xeroderma pigmentosum, Cockayne syndrome, and ultraviolet-sensitive syndrome.着色性干皮病E组与DDB2，一种损伤特异性DNA结合蛋白的较小亚基：关于着色性干皮病、科凯恩综合征和紫外线敏感综合征的分类建议
J Dermatol Sci. 2006 Feb;41(2):87-96. doi: 10.1016/j.jdermsci.2005.10.010. Epub 2005 Dec 1.
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DNA repair deficient photodermatoses.DNA修复缺陷型光皮肤病
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Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum.紫外线照射后RNA合成无法恢复：科凯恩综合征和着色性干皮病患者细胞中的早期缺陷。
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Sensitivity of excision repair in normal human, xeroderma pigmentosum variant and Cockayne's syndrome fibroblasts to inhibition by cytosine arabinoside.正常人、着色性干皮病变异型和科凯恩综合征成纤维细胞中切除修复对阿糖胞苷抑制的敏感性。
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Roles of poly(ADP-ribose) synthesis in repair and replication in normal human, Cockayne syndrome, and xeroderma pigmentosum fibroblasts after UV irradiation.紫外线照射后，聚（ADP - 核糖）合成在正常人、科凯恩综合征患者和着色性干皮病成纤维细胞的修复与复制中的作用。
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Prolonged p53 protein accumulation in trichothiodystrophy fibroblasts dependent on unrepaired pyrimidine dimers on the transcribed strands of cellular genes.毛发硫营养不良成纤维细胞中p53蛋白的长期积累依赖于细胞基因转录链上未修复的嘧啶二聚体。
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[DNA repair in the UV irradiation of human peripheral blood lymphocytes (healthy donors and xeroderma pigmentosum patients) in relation to the dedifferentiation process in phytohemagglutinin exposure].[紫外线照射人外周血淋巴细胞（健康供体和着色性干皮病患者）时的DNA修复与植物血凝素暴露下的去分化过程的关系]
Tsitologiia. 1984 May;26(5):599-604.

引用本文的文献

1
Slowly progressing nucleotide excision repair in trichothiodystrophy group A patient fibroblasts.A 型先天性角化不良症患者成纤维细胞中核苷酸切除修复的缓慢进展。
Mol Cell Biol. 2011 Sep;31(17):3630-8. doi: 10.1128/MCB.01462-10. Epub 2011 Jul 5.
2
Cockayne syndrome and xeroderma pigmentosum.科凯恩综合征和着色性干皮病。
Neurology. 2000 Nov 28;55(10):1442-9. doi: 10.1212/wnl.55.10.1442.
3
UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne syndrome.紫外线损伤会导致具有着色性干皮病D型（XP-D）和科凯恩综合征综合特征患者的细胞中出现不受控制的DNA断裂。
EMBO J. 2000 Mar 1;19(5):1157-66. doi: 10.1093/emboj/19.5.1157.
4
Xeroderma pigmentosum complementation group G associated with Cockayne syndrome.与科凯恩综合征相关的着色性干皮病互补组G
Am J Hum Genet. 1993 Jul;53(1):185-92.
5
Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.对一名患有着色性干皮病和科凯恩综合征临床特征的着色性干皮病互补组D患者的DNA修复缺陷进行分子和细胞分析。
Am J Hum Genet. 1995 Jan;56(1):167-74.
6
Lack of complementation between xeroderma pigmentosum complementation groups D and H.着色性干皮病互补组D和H之间缺乏互补作用。
Hum Genet. 1989 Feb;81(3):203-10. doi: 10.1007/BF00278989.
7
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.
8
Xeroderma pigmentosum complementation group H is withdrawn and reassigned to group D.着色性干皮病互补组H被撤销，并重新归类为D组。
Hum Genet. 1991 Dec;88(2):242. doi: 10.1007/BF00206082.