HLA-DRB1基因多态性与克山病核心家系的关联和连锁分析

Study on the correlation and linkage between HLA-DRB1 gene polymorphism and Keshan disease

目的 探讨克山病与HLA DRB1基因的遗传关系。方法 采用基于单体型相对风险 (HHRR)和传递不平衡检验 (TDT)的方法 ,在 18个克山病患者及 36个双亲中进行DRB1基因多态性的关联和连锁分析。结果 经HHRR和TDT分析 ,克山病患者与DRB1位点DR15相关联和连锁 (χ2 分别为 7.4 0和 12 .2 5 ,P <0 .0 1)。结论 克山病与HLA DRB1

Objective To study the genetic relationship between HLA-DRB1 gene polymorphism and Keshan disease (KD) in Chinese. Methods The haplotype-based haplotype relative risk (HHRR) and transmission disequilibrium test (TDT) methods were used to analyze the genetic association and linkage in 18 patients and their parents. Results Significant association ( χ 2=7.40, P<0.01) and linkage ( χ 2=12.25, P<0.01) were between HLA DRB1 allele and KD patients. Conclusion KD is associated and in linkage with HLA DRB1 gene.