用于研究杀伤细胞免疫球蛋白样受体基因单倍型的 2DS4 变体的等位基因分型方法。
An allelic typing method for 2DS4 variant used in study of haplotypes of killer cell immunoglobulin-like receptor gene.
机构信息
Key Laboratory of Thrombosis and Hemostasis, Ministry of Health, Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, China.
出版信息
Int J Lab Hematol. 2010 Dec;32(6 Pt 2):625-32. doi: 10.1111/j.1751-553X.2010.01234.x.
The KIR2DS4 variants differ in exon 5 and play a role in hematopoietic stem cells transplantation (HSCT). A sequence-based testing (SBT) and TOPO TA cloning system identifying and distinguishing alleles of the KIR2DS4 gene was established and applied to a total of 150 Chinese-Han individuals: 75 patients received T-cell-depleted HSCT and their unrelated donors. The majority (139) of the 150 samples (92.7%) were positive for KIR2DS4. Four of the nine known KIR2DS4 alleles, KIR2DS4 *00101, *003,*004, and *007, were identified. In the haplotype A/A group, a higher risk of acute graft-versus-host disease (aGVHD) was seen when the donor carried two full-length KIR2DS4 alleles (RR 9.0 [95% CI 1.2-66.9], P = 0.010). Our findings suggested that the expression of full-length 2DS4 (*001) in A/A group may contribute to a worse clinical outcome after URD-HSCT. These data would be beneficial for the selection of suitable donors.
KIR2DS4 变体在exon 5 上存在差异，在造血干细胞移植 (HSCT) 中发挥作用。建立了一种基于序列的测试 (SBT) 和 TOPO TA 克隆系统，用于鉴定和区分 KIR2DS4 基因的等位基因，并应用于总共 150 名汉族个体：75 名接受 T 细胞耗尽 HSCT 的患者及其无关供体。在 150 个样本中，大多数（139）为 KIR2DS4 阳性。确定了 9 个已知的 KIR2DS4 等位基因中的 4 个，即 KIR2DS4 *00101、*003、*004 和 *007。在单倍型 A/A 组中，当供体携带两个全长 KIR2DS4 等位基因时，发生急性移植物抗宿主病 (aGVHD) 的风险更高 (RR 9.0 [95%CI 1.2-66.9]，P = 0.010)。我们的研究结果表明，A/A 组全长 2DS4(*001) 的表达可能导致 URD-HSCT 后临床结局恶化。这些数据有助于选择合适的供体。
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