Paz-y-Miño César, Pérez J Christian, Fiallo B Fernanda, Leone Paola E
Laboratorio de Genética Molecular y Citogenética Humana, Departamento de Ciencias Biológicas, Pontificia Universidad Católica del Ecuador, PO Box 17-1-2184, Quito, Ecuador.
Cancer Genet Cytogenet. 2002 Feb;133(1):29-33. doi: 10.1016/s0165-4608(01)00547-7.
DNA common variants may significantly contribute to genetic risk for common diseases. Because of its biological function in DNA repair, hMSH2 gene polymorphisms are candidates for influencing cancer susceptibility and overall genetic stability. Twenty-two individuals with non-Hodgkin lymphomas (NHL) and 50 normal individuals were screened for polymorphic variants in exon 13 of the hMSH2 mismatch repair gene in order to determine if there is any association with development of lymphomas. The polymorphism screening was carried out by single strand conformation polymorphism analysis and DNA sequencing. We found a single nucleotide polymorphism: a T to C substitution at the -6 intronic splice acceptor site of exon 13 (gIVS12-6T>C). This polymorphism was present in 7.5% of normal individuals (allele frequency = 0.05) and in 22.73% of lymphomas (allele frequency = 0.11) (P<0.01). These results suggest that the polymorphism may be associated with an increased risk to develop NHL and that probably there are differences in the effect of the polymorphisms among populations.
DNA常见变异可能对常见疾病的遗传风险有显著影响。由于hMSH2基因在DNA修复中具有生物学功能，其基因多态性是影响癌症易感性和整体遗传稳定性的候选因素。为了确定hMSH2错配修复基因第13外显子中的多态性变异是否与淋巴瘤的发生有关，我们对22例非霍奇金淋巴瘤（NHL）患者和50例正常个体进行了筛查。多态性筛查通过单链构象多态性分析和DNA测序进行。我们发现了一个单核苷酸多态性：第13外显子-6内含子剪接受体位点处的T到C替换（gIVS12-6T>C）。该多态性在7.5%的正常个体中存在（等位基因频率=0.05），在22.73%的淋巴瘤患者中存在（等位基因频率=0.11）（P<0.01）。这些结果表明，该多态性可能与患NHL的风险增加有关，并且不同人群中该多态性的影响可能存在差异。
