在沙特骨髓捐献者中发现三个新的 HLA-C 等位基因（HLA-C*14:02:13、HLA-C*15:72 和 HLA-C*15:74）。
Three new HLA-C alleles (HLA-C*14:02:13, HLA-C*15:72 and HLA-C*15:74) in Saudi bone marrow donors.
机构信息
Department of Basic Sciences, College of Science and Health Professions, King Saud bin Abdulaziz University for Health Sciences, National Guard Health Affairs, Riyadh, Saudi Arabia.
King Abdullah International Medical Research Center, National Guard Health Affairs, Riyadh, Saudi Arabia.
出版信息
Int J Immunogenet. 2015 Oct;42(5):359-60. doi: 10.1111/iji.12218. Epub 2015 Aug 4.
Three new HLA-C alleles were identified by sequence-based typing method (SBT) in donors for the Saudi Bone Marrow Donor Registry (SBMDR). HLA-C14:02:13 differs from HLA-C14:02:01 by a silent G to A substitution at nucleotide position 400 in exon 2, where lysine at position 66 remains unchanged. HLA-C15:72 differs from HLA-C15:22 by a nonsynonymous C to A substitution at nucleotide position 796 in exon 3, resulting in an amino acid change from phenylalanine to leucine at position 116. HLA-C15:74 differs from HLA-C15:08 by a nonsynonymous C to T substitution at nucleotide position 914 in exon 3, resulting in an amino acid change from arginine to tryptophan at position 156.
通过序列基检测分型方法（SBT），在沙特骨髓捐献者登记处（SBMDR）的供者中发现了三个新的 HLA-C 等位基因。HLA-C14:02:13 与 HLA-C14:02:01 相比，在第 2 外显子的核苷酸位置 400 处发生了一个沉默的 G 到 A 取代，位置 66 的赖氨酸保持不变。HLA-C15:72 与 HLA-C15:22 相比，在第 3 外显子的核苷酸位置 796 处发生了一个非同义的 C 到 A 取代，导致位置 116 的苯丙氨酸变为亮氨酸。HLA-C15:74 与 HLA-C15:08 相比，在第 3 外显子的核苷酸位置 914 处发生了一个非同义的 C 到 T 取代，导致位置 156 的精氨酸变为色氨酸。
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