Hernández-Frederick C J, Giani A S, Cereb N, Sauter J, Silva-González R, Pingel J, Schmidt A H, Ehninger G, Yang S Y
DKMS German Bone Marrow Donor Center, Tübingen, Germany.
Tissue Antigens. 2014 Mar;83(3):184-9. doi: 10.1111/tan.12304.
We describe 2127 new human leukocyte antigen (HLA) class I alleles found in registered stem cell donors. These alleles represent 28.9% of the currently known class I alleles. Comparing new allele sequences to homologous sequences, we found 68.1% nonsynonymous nucleotide substitutions, 28.9% silent mutations and 3.0% nonsense mutations. Many substitutions occurred at positions that have not been known to be polymorphic before. A large number of HLA alleles and nucleotide variations underline the extreme diversity of the HLA system. Strikingly, 156 new alleles were found not only multiple times, but also in carriers of various parentage, suggesting that some new alleles are not necessarily rare. Moreover, new alleles were found especially often in minority donors. This emphasizes the benefits of specifically recruiting such groups of individuals.
我们描述了在已注册的干细胞供体中发现的2127个新的人类白细胞抗原(HLA)I类等位基因。这些等位基因占目前已知I类等位基因的28.9%。将新等位基因序列与同源序列进行比较,我们发现68.1%为非同义核苷酸替换,28.9%为沉默突变,3.0%为无义突变。许多替换发生在以前未知具有多态性的位置。大量的HLA等位基因和核苷酸变异突显了HLA系统的极端多样性。引人注目的是,156个新等位基因不仅被多次发现,而且在不同血统的携带者中也有发现,这表明一些新等位基因不一定罕见。此外,新等位基因在少数族裔供体中尤其常见。这强调了专门招募这类人群的益处。