TNF-α基因启动子多态性与多发性骨髓瘤易感性关系的观察

Relationship between the Polymorphism of Promotor Region in TNF-α Gene and the Susceptibility to Multiple Myeloma

为了探讨TNF α基因启动区 30 8、 2 38位点多态与多发性骨髓瘤 (MM )易感性的关系。采用SSP PCR (sequencespecificprimer PCR )方法检测 5 6例中国汉族MM患者和 114名中国汉族健康对照者TNF α基因启动区 30 8、 2 38位点等位基因频率 ,分析两位点多态性与MM易感性的关系。结果显示 ,MM组与对照组 2 38位点A的频率分别为 15 18% (17/ 112 ) ;15 79%(36 / 2 2 8) ,两组间比较无显著差异 (P =0 884 ) ;MM组与对照组 30 8位点A的频率分别为 1 79% (2 / 112 ) ;9 2 1% (2 1/2 2 8) ,两组间比较有显著差异 (P =0 0 10 ) ,MM组明显低于对照组。结论 :在所研究的人群中未发现TNF α基因启动子 2 38位点多态性与MM易感性相关 ,但MM患者TNF α基因启动区 30 8位点A的频率明显低于对照组 ,推测TNF α 30

To find out any relations of the polym orphism of promotor region in TNF-α gene and the susceptibility to multiple myeloma, the frequencies of the promotor region-238 and -308 sites of TNF-α gene alleles from 114 healthy individuals of and 56 patients with multiple myeloma(MM)of Chinese Han nationality were investigated by means of sequenced-specific primer-PCR(SSP-PCR), and the relationship between the polymorphism of these two loci and the susceptibility to MM was analyzed. It was found that the frequencies of allele A in -238 site from healthy individuals and MM patients were 15.18%(17/112) and 15.79%(36/228) respectively. No significant difference in frequency of the -238 site allele A was found in these two groups(P=0.884). Frequencies of -308 site from healthy individuals and MM patients were 1.79%(2/112) and 9.21%(21/228) respectively, with significant difference in these two groups. In conclusion, it suggests that although in the populations studied no association was found between the polymorphism of the -238 site allele A and the susceptibility to MM, but the frequency of allele in -308 site is significantly lower than those of healthy individuals, suggesting that the -308 A allele might be a protective factor in the pathogenesis of multiple myeloma.