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着色性干皮病患者培养的黑素细胞中的DNA修复缺陷。

Defective DNA repair in cultured melanocytes from xeroderma pigmentosum patients.

作者信息

Yamaguchi J, Mamada A, Kondo S, Satoh Y

机构信息

Department of Dermatology, School of Medicine, Tokyo Medical and Dental University, Japan.

出版信息

J Dermatol. 1990 Aug;17(8):465-72. doi: 10.1111/j.1346-8138.1990.tb01677.x.

DOI:10.1111/j.1346-8138.1990.tb01677.x
PMID:2229649
Abstract

The DNA repair of ultraviolet (UV)-induced damages in primary cultured melanocytes from xeroderma pigmentosum (XP) patients and normal subjects were studied by measuring unscheduled DNA synthesis (UDS) on autoradiographs. Melanocytes were cultured in alpha-minimum essential medium (alpha-MEM) supplemented with 10% fetal calf serum (FCS), 12-O-tetradecanoyl-phorbol-13 acetate (TPA), and geneticin. The levels of UDS in XP melanocytes were compared with those in normal melanocytes. In both normal and XP melanocytes, post-UV-UDS increased dose-dependently at doses of 5-10 J/m2. XP melanocytes exhibited various levels of defect in DNA repair, depending on the type of XP. Melanocytes from XP-A patients displayed very low levels of UDS, only 6.2-8.4% that of the normal melanocytes. However, UDS values in melanocytes from intermediate groups, XP-D, XP-E, and XP-F, were relatively high, 37.2-53.5% of the control in XP-D, 50.0-66.5% in XP-E, and 38.2-46.7% in XP-F, respectively. Melanocytes from XP-variant patients exhibited almost normal levels of UDS, 87.7-91.6% of those from normal subjects. The levels of UDS in XP melanocytes were very similar to those in fibroblasts isolated from the same specimens.

摘要

通过测量放射自显影片上的非预定DNA合成(UDS),研究了着色性干皮病(XP)患者和正常受试者原代培养黑素细胞中紫外线(UV)诱导损伤的DNA修复情况。黑素细胞在补充有10%胎牛血清(FCS)、12 - O - 十四烷酰佛波醇 - 13 - 乙酸酯(TPA)和遗传霉素的α - 最低必需培养基(α - MEM)中培养。将XP黑素细胞中的UDS水平与正常黑素细胞中的进行比较。在正常和XP黑素细胞中,紫外线照射后的UDS在5 - 10 J/m²剂量下均呈剂量依赖性增加。XP黑素细胞根据XP的类型表现出不同程度的DNA修复缺陷。XP - A患者的黑素细胞显示出非常低的UDS水平,仅为正常黑素细胞的6.2 - 8.4%。然而,中间组XP - D、XP - E和XP - F的黑素细胞中的UDS值相对较高,XP - D中为对照的37.2 - 53.5%,XP - E中为50.0 - 66.5%,XP - F中为38.2 - 46.7%。XP变异型患者的黑素细胞表现出几乎正常的UDS水平,为正常受试者的87.7 - 91.6%。XP黑素细胞中的UDS水平与从相同标本中分离的成纤维细胞中的非常相似。

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