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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。
DRB gene polymorphism and HLA-DR-DQ haplotype in IDDM, 81 pedigrees and 84 normal Han population were identified by PCR amplification of HLA-DRB and DQB1 sequence-specific primers. The results showed that: (1) The frequencies of DRB1 * 03 and DRB1 * 09 alleles in IDDM patients were significantly higher than those in control subjects with frequency of 8.64% v. s 3.0% and 28.4% v. s16.1 (P <0.05). (2) The frequency of DRB1-DRB3 / DRB1-DRB4 genotype in patients was significantly higher than that in control group, which was 19.8% v. s6.7% (P <0.05). (3) For the first time, DRB1 * 12 allele was positively correlated with Chinese IDDM. The above results suggest that the differences in the distribution of HLA-DR types in different ethnic groups may be the molecular basis for the changes in the incidence of IDDM in different ethnic groups.