Hashem N, Bootsma D, Keijzer W, Greene A, Coriell L, Thomas G, Cleaver J E
Cancer Res. 1980 Jan;40(1):13-8.
Xeroderma pigmentosum (XP) has been reported to be unusually frequent among Middle Eastern populations. This report describes the first survey of DNA repair characteristics among Egyptians. Sixteen XP patients were contacted, and biopsies from eight were analyzed for unscheduled DNA synthesis, strand breakage during pyrimidine dimer excision, and complementation groups. The patients were equally distributed between Complementation Groups A and C. Unscheduled synthesis and strand breaks were significantly higher in Group C than in Group A cells. Central nervous system disorders were found in all of the Group A patients and in none of the Group C patients. No clinical symptoms were observed in the heterozygotes. A 2-month-old sib of an XP patient was free of symptoms, but unscheduled synthesis and strand breakage in cultures from this sib were the same as in the related XP homozygote. From the relative frequencies of each complementation group found in various parts of the world, we offer a hypothesis concerning the relative sizes and roles for gene products specified by the alleles or genes corresponding to each complementation group.
据报道，着色性干皮病（XP）在中东人群中异常常见。本报告描述了对埃及人DNA修复特征的首次调查。我们联系了16名XP患者，并对其中8名患者的活检样本进行了分析，检测其非定时DNA合成、嘧啶二聚体切除过程中的链断裂情况以及互补组。患者在互补组A和互补组C中分布均匀。C组细胞中的非定时合成和链断裂明显高于A组细胞。在所有A组患者中均发现中枢神经系统疾病，而C组患者中无一例出现。杂合子未观察到临床症状。一名XP患者2个月大的同胞无症状，但该同胞培养物中的非定时合成和链断裂情况与相关的XP纯合子相同。根据在世界不同地区发现的每个互补组的相对频率，我们提出了一个关于每个互补组对应等位基因或基因所指定基因产物的相对大小和作用的假设。
