燃煤型砷中毒患者皮损PTCH基因D9S287和D9S180位点微卫星不稳定性的观察

目的观察燃煤型砷中毒患者皮损组织中PTCH基因微卫星DNA不稳定性及杂合性丢失与临床病理、临床分度之间的关系。方法选取D9S287、D9S180两个微卫星多态性标记,采用PCR扩增-变性聚丙烯酰胺凝胶电泳-银染法检测不同病理类型的燃煤型砷中毒患者的微卫星的改变。结果34例患者皮损组织PTCH基因微卫星不稳定性的发生率为29.41%(10/34),杂合性丢失的发生率为14.7%(5/34),微卫星的改变与病理分型相关(P<0.01),与临床分度无关(P>0.05)。结论PTCH基因微卫星不稳定性和杂合性丢失可能在砷中毒患者皮损癌变的发生发展中起重要作用。

Microsatellite instability of PTCH gene on D9S287、D9S180 sites involved in skin lesions in patients with coal arsenic poisoning

Objective To detect microsatellite instability(MSI) and loss of heterozygosity(LOH) frequencies of microsatellite sites D9S287?D9S180 in PTCH gene of the pathogenesis of coal arsenic poisoning(CAP) skin lesions, especially skin carcinoma, and to explore correlations between MSI and clinic pathologic features of CAP. Methods Two polymorphic microsatellite markers D9S287?D13S180 were selected to investigate microsatellite alternations such as MSI and LOH in 34cases of CAP skin lesions by polymerase chain reaction(PCR)-denatured polyacrylamide gel electrophoresis-silver staining, followed by the comparison of the results with the clinic pathological parameters. Results 34cases of CAP skin lesions tissues showed that the positive MSI and LOH PTCH gene were 29.41%(10/34) and14.7%(5/34) respectively. Microsatellite alternations were associated with pathological types(P < 0.01), but not with clinic grades (P > 0.05). Conclusions MSI and LOH of PTCH gene may play a certain role in the carcinogenesis and progression of CAP skin lesions .