15个短串联重复序列位点与大骨节病传递不平衡分析及与低硒暴露的交互作用

摘要

目的 寻找大骨节病(KBD)的易感基因,探讨低硒暴露与KBD易感基因的交互作用.方法 在陕西省麟游县KBD病区收集23个KBD核心家系,应用聚合酶链反应技术及GeneScan Analysis 3.7和Genotyper3.7软件进行基因分析.对核心家系进行单体型相对风险分析(HRR)和传递/不平衡检验(TDT).采用原子荧光光谱法测定血清硒水平,用二项Logistic回归模型分析低硒暴露与KBD可疑易感基因的交互作用.结果 23个核心家系的HRR和TDT分析发现3个等位基因(位点D2S151的等位基因248bp、位点D2S305的等位基因320bp和位点DllS4094的等位基因194bp)与KBD关联(P＜0.05).被研究人群的平均血硒浓度为0.037 μg/ml,未发现低硒暴露与多态性STR位点的交互作用(P＞0.05).结论 D2S151、D2S305和D11S4094位点或其附近位点的多态性可能与KBD发病有关,可疑易感基因和低硒暴露在研究人群中无交互作用.%Objective To identify the genetic susceptibility to Kshin-Beck disease (KBD) and explore the interaction between low selenium (Se) and the susceptibility gene loci in KBD. Methods The DNA samples collected from 23 KBD nuclear families were analyzed using PCR and GeneScan Analysis 3.7 and Genotyper3.7 software. The haplotype relative risk (HRR) and transmission disequilibrium test (TDT) were used to test the data of the genotypes. The serum selenium (Se) concentration was measured by atomic fluorescence spectrometry, and the interaction between low Se and the susceptibility loci was calculated using a binary logistic regression. Results In the 23 nuclear families, the alleles of D2S151 (248 bp), D2S305 (320 bp), and D11S4094 (194 bp) showed significant correlation to KBD (P<0.05). Serum Se concentrations in the studied individuals was 0.037 fig/ml. No significant statistical interaction was observed between low Se exposure and the susceptibility loci (P〉0.05). Conclusions The polymorphisms in the STR loci D2S305, D2S151, and D11S4094 or the polymorphism loci near them might been related to KBD susceptibility. Low Se exposure shows no significant interaction with the susceptibility loci.