Department for Blood Group Serology and Transfusion Medicine, Medical University of Vienna, Vienna, Austria.
Department for Blood Group Serology and Transfusion Medicine, General Hospital of Vienna, Vienna, Austria.
HLA. 2019 Feb;93(2-3):89-96. doi: 10.1111/tan.13439. Epub 2019 Jan 6.
We discovered a new HLA-B allele, HLA-B44:138Q, and confirmed its segregation. For characterisation, we used serology, sequence specific oligonucleotide (SSO), sequence specific primer (SSP), and full length sequencing by Sanger and next-generation sequencing. From an evolutionary point the 5' part of the new allele is identical with alleles from the HLA-B44:02 group, while its 3' part is identical to the HLA-B*15:18:01:02 allele, the breakpoint being located somewhere between intron 3 and exon 4. The salient feature of the new allele is a deletion of codon 94 in exon 3, which is unique for HLA-alleles reported so far. Gene conversion can be hypothesised in the generation of this HLA sequence; however, the deletion seems to have occurred additionally. Other HLA-alleles of the new allele's haplotype were common alleles.
我们发现了一个新的 HLA-B 等位基因 HLA-B44:138Q，并确认了其分离。为了进行特征描述，我们使用了血清学、序列特异性寡核苷酸（SSO）、序列特异性引物（SSP）以及 Sanger 法的全长测序和下一代测序。从进化的角度来看，新等位基因的 5'部分与 HLA-B44:02 组的等位基因相同，而其 3'部分与 HLA-B*15:18:01:02 等位基因相同，断点位于 3 号内含子和 4 号外显子之间。该新等位基因的显著特征是外显子 3 中密码子 94 的缺失，这是迄今为止报道的 HLA 等位基因所特有的。在该 HLA 序列的产生中可以假设基因转换，但似乎另外发生了缺失。该新等位基因的单体型的其他 HLA 等位基因是常见的等位基因。
