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Detection of novel and confirmation of very rare and rare HLA alleles by next generation sequencing in Croatia.
HLA ( IF 8 ) Pub Date : 2020-05-08 , DOI: 10.1111/tan.13905 Marija Burek Kamenaric 1 , Marija Maskalan 1 , Zorana Grubic 1 , Katarina Stingl Jankovic 1 , Renata Zunec 1
HLA ( IF 8 ) Pub Date : 2020-05-08 , DOI: 10.1111/tan.13905 Marija Burek Kamenaric 1 , Marija Maskalan 1 , Zorana Grubic 1 , Katarina Stingl Jankovic 1 , Renata Zunec 1
Affiliation
Routine HLA typing in clinical practice encompassing solid organ and hematopoietic stem cells transplantation programs, disease association typing, volunteer marrow donor typing and population studies, provided a large dataset for studying HLA allele polymorphism in the Croatian population which led to the identification of new, very rare and rare HLA alleles. Over the last 4 years we have identified six new HLA alleles (HLA‐A*01:200, A*02:836, A*11:01:01:44, B*08:251, B*18:169 and C*05:46:01:02) and a number of very rare (HLA‐B*08:78, DRB1*12:39, DRB1*13:23:02 and DQB1*06:09:04) or rare (HLA‐A*24:41, B*39:40:01N, B*51:78:01, DRB1*01:31 and DRB1*14:111) alleles using sequence‐based typing methods. The reported data enhance the knowledge about HLA polymorphisms in the Croatian population and provide a foundation for further studies in population genetics.
中文翻译:
在克罗地亚通过下一代测序检测新颖的病原,并确认非常罕见的HLA等位基因。
临床实践中常规的HLA分型包括实体器官和造血干细胞移植计划,疾病关联分型,志愿者骨髓供体分型和人群研究,为研究克罗地亚人群中的HLA等位基因多态性提供了一个庞大的数据集,从而导致了新的,非常重要的发现。罕见的HLA等位基因。在过去的四年中,我们已经确定了六个新的HLA等位基因(HLA-A * 01:200,A * 02:836,A * 11:01:01:44,B * 08:251,B * 18:169和C * 05:46:01:02)和一些非常罕见的(HLA‐B * 08:78,DRB1 * 12:39,DRB1 * 13:23:02和DQB1 * 06:09:04)或罕见(HLA-A * 24:41,B * 39:40:01N,B * 51:78:01,DRB1 * 01:31和DRB1 * 14:111)等位基因,使用基于序列的分型方法。报告的数据增强了克罗地亚人群中HLA多态性的知识,并为进一步研究人群遗传学奠定了基础。
更新日期:2020-05-08
中文翻译:
在克罗地亚通过下一代测序检测新颖的病原,并确认非常罕见的HLA等位基因。
临床实践中常规的HLA分型包括实体器官和造血干细胞移植计划,疾病关联分型,志愿者骨髓供体分型和人群研究,为研究克罗地亚人群中的HLA等位基因多态性提供了一个庞大的数据集,从而导致了新的,非常重要的发现。罕见的HLA等位基因。在过去的四年中,我们已经确定了六个新的HLA等位基因(HLA-A * 01:200,A * 02:836,A * 11:01:01:44,B * 08:251,B * 18:169和C * 05:46:01:02)和一些非常罕见的(HLA‐B * 08:78,DRB1 * 12:39,DRB1 * 13:23:02和DQB1 * 06:09:04)或罕见(HLA-A * 24:41,B * 39:40:01N,B * 51:78:01,DRB1 * 01:31和DRB1 * 14:111)等位基因,使用基于序列的分型方法。报告的数据增强了克罗地亚人群中HLA多态性的知识,并为进一步研究人群遗传学奠定了基础。