Ⅰ型糖尿病患者的HLA-DR-DQ基因单体型分析

Analysis of HLA-DR-DQ Haplotypes in Patients with IDDM in Hans Chinese

应用ＨＬＡ－ＤＲＢ，ＤＱＢ１序列特异性引物ＰＣＲ扩增方法，鉴定８１例ＩＤＤＭ患者，７个家系和８４例正常对照汉族人群的ＤＲＢ基因多态性及ＩＤＤＭ的ＨＬＡ－ＤＲ－ＤＱ基因单体型。结果表明：（１）ＩＤＤＭ患者ＤＲＢ１＊０３，ＤＲＢ１＊０９等位基因频率明显高于对照组，其频率分别为８．６４％ｖ．ｓ３．０％和２８．４％ｖ．ｓ１６．１（Ｐ＜０．０５）。（２）患者中ＤＲＢ１－ＤＲＢ３／ＤＲＢ１－ＤＲＢ４基因型频率明显高于对照组，即１９．８％ｖ．ｓ６．７％（Ｐ＜０．０５）。（３）首次证明ＤＲＢ１＊１２等位基因与中国人ＩＤＤＭ正相关。上述结果提示不同种族ＨＬＡ－ＤＲ型别分布的差异，可能是不同种族人群ＩＤＤＭ发病率变化的分子基础。

Eighty-one IDDM patients , 7 families with IDDM and 84 normal subjects were tested for DRB genes and HLA-DR-DQ haplotypes by PCR/SSP method , The results showed that , 1 )The frequencies of DRB1 * 03 and DRB1 * 09 genes were significantly higher in IDDM patients than that in controls ( 8. 64% v. s. 3. 0% , 2 8. 4% v. s. 1 6. 1% respectively ) . 2 ) the frequency of DRB1 -DRB3/DRB1 -DRB4 genotype was markedly increased in IDDM patients than that in cotrols ( 1 9. 8% v. s. 6. 7% , P< 0. 05 ) . 3 ) the HLA-DRB1 * 1 2 allele might be positive associated with the genetic susceptibility to IDDM in Chinese. The above results suggested that different frequencies of DRB genotypes may be account for the different association of DR genotypes with IDDM in various ethnic groups.