Hereditary dysplastic nevus syndrome: lymphoid cell ultraviolet hypermutability in association with increased melanoma susceptibility.
Hereditary dysplastic nevus syndrome: lymphoid cell ultraviolet hypermutability in association with increased melanoma susceptibility.
复制标题
遗传性发育不良痣综合征：淋巴细胞紫外线过度突变与黑色素瘤易感性增加有关。
作者：
M. I. Perera;K. Um;M. Greene;H. Waters;A. Bredberg;K. Kraemer
遗传性发育不良痣综合征（DNS）是一种特征性疾病，其中受影响的个体具有癌前（发育不良）痣的数量增加和发生皮肤黑色素瘤的风险显著增加。寻找证据的DNS系统性疾病，我们研究了紫外线辐射对培养的淋巴细胞的影响。遗传性DNS患者的EB病毒转化的淋巴母细胞系在每平方米2.3至9.0 J的254 nm紫外线照射治疗后的存活值与对照个体的细胞系相似。次黄嘌呤鸟嘌呤磷酸核糖基转移酶基因座的突变通过使用微量滴定孔试验测量对硫鸟嘌呤的抗性的诱导来评估。三个淋巴母细胞系的遗传性DNS和黑色素瘤患者有2- 3倍的频率诱导突变体每克隆细胞比三个正常线暴露于4.5至9.0 J的紫外线辐射每平方米。突变的DNS淋巴母细胞样细胞系的扩增克隆具有低于6%的正常次黄嘌呤-鸟嘌呤磷酸核糖基转移酶活性。紫外线照射后DNA合成的抑制和恢复在2个DNS和2个正常系中是相似的。DNS线的紫外线诱导的DNA损伤的修复是在正常范围内，通过碱洗脱测量。因此，遗传性DNS表现出体外超变性，这可能反映了体内紫外线诱导的体细胞突变的易感性增加。这种异常可能与遗传性DNS患者黑色素瘤易感性增加有关。
The hereditary dysplastic nevus syndrome (DNS) is a well-characterized disorder in which affected individuals have increased numbers of premalignant (dysplastic) nevi and a markedly increased risk of developing cutaneous melanoma. Seeking evidence of a systemic disorder in DNS, we examined the effect of ultraviolet radiation on cultured lymphoid cells. Epstein-Barr virus-transformed lymphoblastoid cell lines from patients with hereditary DNS had similar survival values following treatment with 2.3 to 9.0 J of 254-nm ultraviolet radiation per m2 as did lines from control individuals. Mutagenesis at the hypoxanthineguanine phosphoribosyltransferase locus was assessed by measuring the induction of resistance to thioguanine using a microtiter well assay. Three lymphoblastoid cell lines from patients with hereditary DNS and melanoma had a 2- to 3-fold greater frequency of induced mutants per clonable cell than three normal lines following exposure to 4.5 to 9.0 J of ultraviolet radiation per m2. Expanded clones of mutated DNS lymphoblastoid cell lines had less than 6% of normal hypoxanthine-guanine phosphoribosyltransferase activity. Inhibition and recovery of DNA synthesis following ultraviolet exposure were similar in 2 DNS and 2 normal lines. Repair by DNS lines of ultraviolet-induced DNA damage was in the normal range as measured by alkaline elution. Thus, hereditary DNS exhibits in vitro hypermutability which may reflect increased susceptibility to ultraviolet-induced somatic mutations in vivo. This abnormality may be related to the increased melanoma susceptibility of patients with hereditary DNS.
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皮肤恶性黑色素瘤的遗传方面。
影响因子：
4
作者：
Dracopoli,NC;Bale,SJ
通讯作者：
Bale,SJ
发育不良痣综合征和遗传性皮肤恶性黑色素瘤患者培养的成纤维细胞对致癌物 4-硝基喹啉 1-氧化物的异常反应。
影响因子：
4.7
作者：
Smith,PJ;Greene,MH;Adams,D;Paterson,MC
通讯作者：
Paterson,MC
遗传性皮肤恶性黑色素瘤患者的成纤维细胞对模拟阳光和 4-硝基喹啉 1-氧化物的诱变作用异常敏感。
DOI：
10.1073/pnas.81.4.1179
发表时间：
1984
影响因子：
11.1
作者：
Howell,JN;Greene,MH;Corner,RC;Maher,VM;McCormick,JJ
通讯作者：
McCormick,JJ
恶性黑色素瘤中多态性限制片段的丢失：对肿瘤异质性的影响。
DOI：
10.1073/pnas.82.5.1470
发表时间：
1985
影响因子：
11.1
作者：
Dracopoli,NC;Houghton,AN;Old,LJ
通讯作者：
Old,LJ
患有发育异常痣的黑色素瘤易发家庭患恶性黑色素瘤的风险较高。
影响因子：
39.2
作者：
Greene,MH;ClarkJr,WH;Tucker,MA;Kraemer,KH;Elder,DE;Fraser,MC
通讯作者：
Fraser,MC