与HLA - C的基因间重组导致了一种新的HLA - A*19等位基因，即HLA - A*2910，其特征是在连接α1和α2结构域的环中存在一个功能失活的氨基酸交换。
Intergenic recombination with HLA-C leads to a novel HLA-A*19 allele, HLA-A*2910, that is characterized by a functionally inactive amino acid exchange in the loop connecting the alpha and alpha domains.
作者信息
Mosebach M, Brixner V, Bader P, Klingebiel T H, Seifried E, Seidl C
机构信息
Department of Transplantation Immunology and Immunogenetics, Institute of Transfusion Medicine and Immunohematology, Red Cross Blood Donor Service, Baden-Württemberg - Hessen, Frankfurt am Main, Germany.
出版信息
Tissue Antigens. 2006 Jan;67(1):75-8. doi: 10.1111/j.1399-0039.2005.00514.x.
This report describes the HLA-A29 allele (A2910) that has been identified by sequence-based typing in an 8-year-old Turkish female with leukaemia during search for a family-related stem cell donor. The allele is characterized by a nucleotide substitution (Guanine to Adenine) in exon 3 at position 258, leading to an amino acid exchange from glutamic acid to lysine at position 177. From family analysis and sequence comparison, the HLA-A*2910 allele has arisen from intergenic recombination with HLA-C. Structurally, the amino acid exchange at position 177 is probably functionally inactive due to the location of this amino acid exchange in the loop connecting the alpha(2) and alpha(3) domains.
本报告描述了HLA - A29等位基因（A2910），该等位基因是在为一名患白血病的8岁土耳其女性寻找家族相关干细胞供体的过程中，通过基于序列的分型鉴定出来的。该等位基因的特征是外显子3中第258位核苷酸发生了取代（鸟嘌呤替换为腺嘌呤），导致第177位氨基酸从谷氨酸变为赖氨酸。通过家族分析和序列比较，HLA - A*2910等位基因是由与HLA - C的基因间重组产生的。在结构上，由于该氨基酸替换位于连接α(2)和α(3)结构域的环中，第177位的氨基酸替换可能在功能上无活性。
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