Voorter C E M, Lee K W, Smillie D, Tilanus M G J, van den Berg-Loonen E M
Tissue Typing Laboratory, University Hospital Maastricht, Maastricht, The Netherlands.
Tissue Antigens. 2007 Apr;69 Suppl 1:76-81. doi: 10.1111/j.1399-0039.2006.761_1.x.
Within the human leukocyte antigen-DQA1 workshop project the level of molecular heterogeneity of the DQA1 gene was investigated. An improved sequence-based typing protocol was used, enabling analysis of the complete coding sequence, comprising exons 1-4. The participating laboratories implemented the amplification and sequencing primers in their own sequence-based typing approach. The method proved to be sufficiently robust to handle the differences in protocols. All reference samples used for validation were correctly typed for DQA1 by all participating laboratories. Three different populations with a total of 736 individuals were investigated: a population of Korean origin (n= 467), a British Caucasian (n= 114), and a Dutch Caucasian (n= 155) population. Sixteen of the known 28 DQA1 alleles were detected and six new alleles were identified. All novel alleles showed a nucleotide substitution outside exon 2. Comparison of the calculated allele frequencies revealed major differences between the Korean and the Caucasian populations but also between Dutch and British Caucasians. A tight association between DQA1 and DRB1/DQB1 alleles was observed in all three populations.
在人类白细胞抗原-DQA1研讨会项目中，对DQA1基因的分子异质性水平进行了研究。使用了一种改进的基于序列的分型方案，能够分析包括外显子1-4在内的完整编码序列。参与实验室在各自基于序列的分型方法中采用了扩增和测序引物。该方法被证明具有足够的稳健性来处理方案中的差异。所有用于验证的参考样本在所有参与实验室中对DQA1的分型均正确。研究了三个不同的群体，共736人：一个韩国裔群体（n = 467）、一个英国白人群体（n = 114）和一个荷兰白人群体（n = 155）。在已知的28个DQA1等位基因中检测到了16个，并鉴定出6个新等位基因。所有新等位基因均在外显子2之外显示出核苷酸替换。计算得出的等位基因频率比较显示，韩国人群与白人群体之间存在重大差异，荷兰白人和英国白人之间也存在差异。在所有三个群体中均观察到DQA1与DRB1/DQB1等位基因之间存在紧密关联。
