Sato-Matsumura K C, Matsumura T, Koizumi H, Sato H, Nagashima K, Ohkawara A
Department of Dermatology, Hokkaido University School of Medicine, Sapporo, Japan.
Br J Dermatol. 1999 Jun;140(6):1130-2. doi: 10.1046/j.1365-2133.1999.02890.x.
Genomic DNA extracted from peripheral blood mononuclear cells of monozygotic twin patients with urticaria pigmentosa was investigated for mutations of proto-oncogene c-kit. Neither the patients nor their families had genomic mutations in exon 11 or exon 17 of c-kit. The patients did not have any systemic involvement or bone marrow abnormalities. There are indications that some genetic factors may participate in the pathogenesis of urticaria pigmentosa in monozygotic twins. In the present patients, factors other than genomic faults in exon 11 and exon 17 of c-kit may be responsible for the pathogenesis.
对从患有色素性荨麻疹的同卵双胞胎患者外周血单个核细胞中提取的基因组DNA进行了原癌基因c-kit突变研究。患者及其家族在c-kit的第11外显子或第17外显子均未发生基因组突变。患者没有任何全身受累或骨髓异常情况。有迹象表明，一些遗传因素可能参与了同卵双胞胎色素性荨麻疹的发病机制。在本研究的患者中，c-kit第11外显子和第17外显子的基因组缺陷以外的因素可能是发病机制的原因。
