Histocompatibility and Immunogenetics Laboratory, BloodCenter of Wisconsin, 638 N. 18th Street, Milwaukee, WI 53201-2178, USA.
Hum Immunol. 2013 May;74(5):562-6. doi: 10.1016/j.humimm.2012.12.015. Epub 2013 Jan 4.
Identifying an HLA-matched sibling donor for hematopoietic stem cell transplantation (HSCT) is time-consuming and expensive, and often limited by reimbursement caps imposed by insurance providers. To improve the effectiveness and efficiency of screening for HLA-matched siblings, we developed an assay for determining HLA identity using a panel of nine informative short tandem repeat (STR) loci located throughout the HLA complex. The STR panel was assessed for accuracy in identifying HLA-matched siblings in 88 family workups comprising a total of 132 related donor and recipient typing comparisons. All sibling pairs with identical STR alleles were also HLA identical. Of the 48 pairs mismatched at one or more STR alleles, all were genotypically HLA non-identical at one or more loci. The sensitivity and specificity of STR analysis for identifying HLA-matched siblings were 91% and 100%, respectively. Three false negatives occurred due to an STR mutation or possible HLA-DPB1/DQB1 recombination. Additionally, STR genotyping provided additional information allowing determination of the extent of HLA identity in families where HLA haplotype inheritance was ambiguous, due to extensive homozygosity or shared parental haplotypes. The HLA STR assay is a reliable and rapid test that can be used to inexpensively screen potential sibling donors for HLA identity.
寻找与患者人类白细胞抗原（HLA）匹配的同胞供体进行造血干细胞移植（HSCT）既耗时又昂贵，而且往往受到保险公司报销上限的限制。为了提高 HLA 匹配同胞筛查的有效性和效率，我们开发了一种使用分布在整个 HLA 复合体的 9 个信息短串联重复（STR）基因座的panel 来确定 HLA 身份的检测方法。在总共 132 对相关供者和受者分型比较的 88 个家系研究中，评估了 STR 面板在识别 HLA 匹配同胞中的准确性。所有具有相同 STR 等位基因的同胞对均为 HLA 相同。在 1 个或多个 STR 等位基因不匹配的 48 对中，所有均在 1 个或多个基因座上存在基因型 HLA 非相同。STR 分析识别 HLA 匹配同胞的灵敏度和特异性分别为 91%和 100%。由于 STR 突变或可能的 HLA-DPB1/DQB1 重组，出现了 3 个假阴性。此外，STR 基因分型提供了额外的信息，允许确定 HLA 单倍型遗传不明确的家庭中 HLA 身份的程度，这是由于广泛的纯合子或共享的亲本单倍型。HLA STR 检测是一种可靠且快速的测试方法，可用于廉价地筛查潜在的 HLA 匹配同胞供体。
