Clinical characteristics, DNA repair, and complementation groups in xeroderma pigmentosum patients from Egypt.
Clinical characteristics, DNA repair, and complementation groups in xeroderma pigmentosum patients from Egypt.
复制标题
埃及色素性干皮病患者的临床特征、DNA 修复和互补组。
作者：
Nemat Hashem;Dirk Bootsma;W. Keijzer;Arthur Greene;Lewis Corlell;Gregory Thomas;James E. CIaver
据报道，在中东人群中，着色性干皮病（XP）异常频繁。这份报告描述了埃及人DNA修复特征的首次调查。联系了16例XP患者，并对其中8例患者的活检进行了分析，以确定非预定的DNA合成、嘧啶二聚体切除过程中的链断裂和互补基团。患者平均分布在互补组A和C之间。C组细胞的非计划性合成和链断裂明显高于A组。A组患者均有中枢神经系统障碍，C组患者无中枢神经系统障碍。杂合子未见临床症状。一名XP患者2个月大的同胞无症状，但该同胞培养物的非计划合成和链断裂与相关XP纯合子相同。根据在世界各地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的等位基因或基因所指定的基因产物的相对大小和作用的假设。
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.