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UV-light induced sister chromatid exchanges in xeroderma pigmentosum lymphocytes.

作者信息

Schönwald A D, Passarge E

出版信息

Hum Genet. 1977 Apr 15;36(2):213-8. doi: 10.1007/BF00273260.

DOI:10.1007/BF00273260
PMID:858627
Abstract

Cultured lymphocytes from 9 patients with clinically different types of xeroderma pigmentosum were exposed to ultraviolet light at 24 h. An increased rate of sister chromatid exchanges were observed in 6 patients (128--148% increase in three, 34--51% in three), but not in three patients with deSanctis-Cacchione syndrome (xeroderma pigmentosum with mental defect), compared to simultaneously cultured controls. A positive result could be useful as preliminary cytogenetic diagnostic test. The results are interpreted as an expression of UV-light induced chromosomal instability due to impaired DNA repair.

摘要

相似文献

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UV-light induced sister chromatid exchanges in xeroderma pigmentosum lymphocytes.
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2
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引用本文的文献

1
Demonstration of heterogeneity in xeroderma pigmentosum.着色性干皮病异质性的证明。
Arch Dermatol Res. 1980;269(1):81-5. doi: 10.1007/BF00404461.
2
Arsenic elevates the sister chromatid exchange (SCE) rate in human lymphocytes in vitro.砷在体外可提高人淋巴细胞中的姐妹染色单体交换（SCE）率。
Arch Dermatol Res. 1980;267(1):91-5. doi: 10.1007/BF00416927.
3
Functional deficiency of fibroblasts heterozygous for Bloom syndrome as specific manifestation of the primary defect.布鲁姆综合征杂合子成纤维细胞的功能缺陷作为原发性缺陷的特异性表现。

本文引用的文献

1
Postreplication repair of DNA in mammalian cells.哺乳动物细胞中DNA的复制后修复
Life Sci. 1974 Dec 15;15(12):2005-16. doi: 10.1016/0024-3205(74)90018-6.
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Genes which increase chromosomal instability in somatic cells and predispose to cancer.在体细胞中增加染色体不稳定性并易患癌症的基因。
Prog Med Genet. 1972;8:61-101.
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Genetic heterogeneity of xeroderma pigmentosum demonstrated by somatic cell hybridization.通过体细胞杂交证明的着色性干皮病的遗传异质性。
Am J Hum Genet. 1981 Nov;33(6):928-34.
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Risk factors of the cutaneous melanoma phenotype.
Arch Dermatol Res. 1981;270(1):33-6. doi: 10.1007/BF00417147.
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Dna repair: pathways and defects.DNA修复：途径与缺陷
Eur J Pediatr. 1980 Dec;135(2):121-8. doi: 10.1007/BF00441631.
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Sister chromatid exchange analysis.
Am J Hum Genet. 1980 May;32(3):297-313.
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Sister chromatid exchange (SCE) and structural chromosome aberration in mutagenicity testing.致突变性试验中的姐妹染色单体交换（SCE）和染色体结构畸变
Hum Genet. 1981;58(3):235-54. doi: 10.1007/BF00294917.
8
Ultraviolet light-induced chromosomal aberrations in cultured cells from Cockayne syndrome and complementation group C xeroderma pigmentosum patients: lack of correlation with cancer susceptibility.科凯恩综合征和色素性干皮病C互补组患者培养细胞中紫外线诱导的染色体畸变：与癌症易感性缺乏相关性。
Am J Hum Genet. 1988 Mar;42(3):468-75.
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Increase of sister chromatid exchanges in excision repair deficient xeroderma pigmentosum.
Hum Genet. 1989 Feb;81(3):221-5. doi: 10.1007/BF00278992.
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Sister chromatid exchange (SCE) in human lymphocytes. Effect of UV C irradiation and age.
Arch Dermatol Res. 1979 Jul 30;265(3):283-7. doi: 10.1007/BF00412385.
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Differential Giemsa staining of sister chromatids and the study of chromatid exchanges without autoradiography.姐妹染色单体的吉姆萨差别染色及无需放射自显影的染色单体交换研究。
Chromosoma. 1974;48(4):341-53. doi: 10.1007/BF00290991.
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Prenatal diagnosis of xeroderma pigmentosum. Report of the first successful case.着色性干皮病的产前诊断。首例成功病例报告。
Lancet. 1974 Nov 9;2(7889):1109-12. doi: 10.1016/s0140-6736(74)90870-8.
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Microfluorometric detection of deoxyribonucleic acid replication in human metaphase chromosomes.人中期染色体中脱氧核糖核酸复制的显微荧光检测
Proc Natl Acad Sci U S A. 1973 Dec;70(12):3395-9. doi: 10.1073/pnas.70.12.3395.
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Xeroderma pigmentosum: biochemical and genetic characteristics.着色性干皮病：生化及遗传特征
Annu Rev Genet. 1975;9:19-38. doi: 10.1146/annurev.ge.09.120175.000315.
8
An altered apurinic DNA endonuclease activity in group A and group D xeroderma pigmentosum fibroblasts.A组和D组着色性干皮病成纤维细胞中脱嘌呤DNA内切酶活性改变。
Proc Natl Acad Sci U S A. 1976 Apr;73(4):1169-73. doi: 10.1073/pnas.73.4.1169.
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Human diseases with genetically altered DNA repair processes.
Genetics. 1975 Jun;79 Suppl:215-25.
10
Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation.具有正常切除修复水平的着色性干皮病细胞在紫外线照射后DNA合成存在缺陷。
Proc Natl Acad Sci U S A. 1975 Jan;72(1):219-23. doi: 10.1073/pnas.72.1.219.