Petronzelli F, Kimura A, Ferrante P, Mazzilli M C
Department of Experimental Medicine, La Sapienza University, Rome, Italy.
Tissue Antigens. 1995 Apr;45(4):258-63. doi: 10.1111/j.1399-0039.1995.tb02449.x.
Polymorphism in the 5'-upstream regulatory region of the DQA1 gene has been recently described. Using PCR-SSO method and SSCP analysis we have investigated this polymorphism in a group of 111 Italian blood donors which had been oligotyped for DRB1, DQA1 and DQB1 genes. Eight allelic variants were detected. Looking at the relationships among QAP sequences and DQA1 and DRB1 genes, three alternative situations were found: 1. a one-to-one relation between QAP and DQA1 alleles, independently of the other class II genes; 2. the same QAP allele in association with different DQA1-DRB1 haplotypes; 3. the same DQA1 allele with different QAP sequences according to the DRB1 specificity. No unexpected associations with DQB1 gene were found. These results must be interpreted considering that DQA1 and DRB1 genes are transcribed in opposite directions so that the promoter region of DQA1 gene lies between DQA1 and DRB1, close to the former but several hundreds kb away from the latter.
DQA1基因5'-上游调控区的多态性最近已有报道。我们使用PCR-SSO方法和SSCP分析，对一组111名意大利献血者的该多态性进行了研究，这些献血者已对DRB1、DQA1和DQB1基因进行了寡分型。检测到8个等位基因变体。观察QAP序列与DQA1和DRB1基因之间的关系，发现了三种不同情况：1. QAP与DQA1等位基因之间存在一对一关系，与其他II类基因无关；2. 相同的QAP等位基因与不同的DQA1-DRB1单倍型相关联；3. 根据DRB1特异性，相同的DQA1等位基因具有不同的QAP序列。未发现与DQB1基因有意外关联。考虑到DQA1和DRB1基因以相反方向转录，因此DQA1基因的启动子区域位于DQA1和DRB1之间，靠近前者但距离后者数百kb，这些结果必须加以解释。
