Xeroderma pigmentosum variants.
Xeroderma pigmentosum variants.
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着色性干皮病变种。
DOI：
10.1159/000131646
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发表时间：
1981
期刊：
影响因子：
--
通讯作者：
Mulivor,RA
中科院分区：
文献类型：
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作者：
Cleaver,JE;Greene,AE;Coriell,LL;Mulivor,RA
着色性干皮病（XP）是一种临床和遗传学诊断的人类疾病，以红斑升高、色素沉着和光化性癌变为基础，并伴有隐性遗传。XP的几种临床和生化分类已经被区分出来（CLEAVER, 1968, 1972, 1978； JUNG, 1970； CLEAVER和BOOTSMA, 1975； ROBBINS等，1974；HASHEM等，1980）。细胞研究已经确定了XP的8个亚组：补体组A、B、C、D、E、F、G和变体。A组到G组对DNA紫外线损伤的切除修复均存在缺陷（CLEAVER和BOOTSMA, 1975； ARASI等，1979；KEIJZER等，1979）。XP变体的不同之处在于切除修复正常，但紫外线损伤的DNA复制异常（LEHMANN et al., 1975; CLEAVER et al., 1979, 1980）。
Xeroderma pigmentosum (XP) is a hu man disease diagnosed clinically and genet ically on the basis of elevated erythema, hyperpigmentation, and actinic carcino genesis with recessive inheritance. Several clinical and biochemical categories of XP have been distinguished (CLEAVER, 1968, 1972, 1978; JUNG, 1970; CLEAVER and BOOTSMA, 1975; ROBBINS et al., 1974; HASHEM et al., 1980). Cellular studies have identified eight subgroups of XP: comple mentation groups A, B, C, D, E, F, G, and variant. Groups A through G are all defec tive in excision repair of ultraviolet damage in DNA (CLEAVER and BOOTSMA, 1975; ARASI: et al., 1979; KEIJZER et al., 1979). The XP variant is distinct in having normal excision repair, but an abnormality in repli cation of UV-damaged DNA (LEHMANN et al., 1975; CLEAVER et al., 1979, 1980).