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韩国人中的DR6。DR11常常作为受体基因来产生DR13等位基因。

DR6 in Koreans. DR11 frequently acts as a recipient gene to create DR13 alleles.

作者信息

Lee K W

机构信息

Department of Clinical Pathology, Hallym University, College of Medicine, Seoul, Korea.

出版信息

Hum Immunol. 1993 Aug;37(4):229-36. doi: 10.1016/0198-8859(93)90506-v.

Abstract

DR6 is a complex allele family composed of at least 16 different alleles. Although 25% of Koreans express DR6 alleles, this allele family has not been well studied in the population. DNA samples obtained from 252 unrelated individuals were screened by PCR using Taq DNA polymerase and a DRB1 group-specific PCR primer set that amplifies the polymorphic second exon of DR3, DR11, and DR6 DRB1 alleles. To identify the DR6 allelic frequencies in this population, PCR-positive samples were further analyzed by dot-blot hybridization using digoxigenin-labeled SSOPs. In this process, a new DRB1 allele was identified by its unique hybridization pattern and was further characterized by direct sequencing after PCR. The new DRB1 sequence is similar to DRB11101, differing at codon 47 (TAC[Tyr]/TTC[Phe]) and at codon 58 (GCC[Ala]/GAG[Glu]). Based on sequence comparisons as well as its DRB3 and DQ associations, the new allele may have arisen by a gene conversion event from DRB11101. The resultant DR molecule bears DR6 serologic determinants as determined by serologic typing and, based on sequence, is probably a DR13 and not a DR14 allele. These data suggest that the DR11 allele has frequently acted as a recipient gene in the gene conversion events that created the subfamily of DR13 alleles, DRB1*1303, *1304, *1305, and the new allele described here.

摘要

DR6是一个由至少16种不同等位基因组成的复杂等位基因家族。尽管25%的韩国人表达DR6等位基因,但该等位基因家族在这一人群中尚未得到充分研究。使用Taq DNA聚合酶和一组DRB1组特异性PCR引物对从252名无关个体获得的DNA样本进行PCR筛选,该引物组可扩增DR3、DR11和DR6 DRB1等位基因的多态性第二外显子。为了确定该人群中DR6的等位基因频率,对PCR阳性样本使用地高辛标记的序列特异性寡核苷酸探针进行斑点印迹杂交进一步分析。在此过程中,通过其独特的杂交模式鉴定出一个新的DRB1等位基因,并在PCR后通过直接测序对其进行进一步表征。新的DRB1序列与DRB11101相似,在密码子47(TAC[酪氨酸]/TTC[苯丙氨酸])和密码子58(GCC[丙氨酸]/GAG[谷氨酸])处存在差异。基于序列比较及其与DRB3和DQ的关联,新等位基因可能是由DRB11101的基因转换事件产生的。通过血清学分型确定,所得的DR分子具有DR6血清学决定簇,基于序列,它可能是一个DR13等位基因而非DR14等位基因。这些数据表明,在产生DR13等位基因亚家族DRB1*1303、*1304、*1305以及本文所述新等位基因的基因转换事件中,DR11等位基因经常充当受体基因。

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