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首页> 外文期刊>International journal of immunogenetics >A case of maternal-foetal chimerism identified during routine histocompatibility testing for hematopoietic stem cell transplantation
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A case of maternal-foetal chimerism identified during routine histocompatibility testing for hematopoietic stem cell transplantation

机译：在常规组织相容性测试中鉴定出的一例产妇-胎儿嵌合体，用于造血干细胞移植

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摘要

This report describes a case of maternal-foetal chimerism identified in a boy diagnosed with SCID, who underwent HLA testing in preparation for HSCT. The first analysis was carried out on DNA from peripheral blood and included HLA-A, HLA-B, HLA-DRB1 typing using PCR-SSO. The patient's HLA-B typing results were noninterpretable. All samples were retyped for HLA-B using PCR-SSP, again resulting in noninterpretable typing of patient's HLA-B. In both cases, several weak positive probes/reactions interfered with the interpretation when using commercial software. Next round of HLA typing, using PCR-SSP and PCR-SSO methods, included the patient's bone marrow sample and HLA-C locus, but interpretation was again not possible. The PCR-STR analysis performed on both peripheral blood and bone marrow samples revealed seven STRs for which two maternal and one paternal allele were detected. Retrospective manual interpretation of HLA-B and HLA-C typing revealed that weak positive reactions were indeed owed to paternal HLA-B and HLA-C alleles and that the patient had both maternal and one paternal allele. Retyping of HLA-B and HLA-C loci and STR analysis on the patient's buccal cells sample revealed the expected one maternal/one paternal allele pattern. In summary, the combination of several different typing methods and manual interpretation were necessary to obtain the patient's HLA typing results.
机译：该报告描述了一例在诊断为SCID的男孩中发现的母体-胎儿嵌合体病例，该男孩接受了HLA测试以准备进行HSCT。第一次分析是对来自外周血的DNA进行的，包括使用PCR-SSO分型的HLA-A，HLA-B，HLA-DRB1。患者的HLA-B分型结果无法解释。使用PCR-SSP对所有样品的HLA-B进行重新分型，再次导致无法解释患者HLA-B的分型。在两种情况下，使用商业软件时，几种弱阳性探针/反应都会干扰解释。使用PCR-SSP和PCR-SSO方法进行的下一轮HLA分型包括患者的骨髓样本和HLA-C基因座，但再次无法进行解释。对外周血和骨髓样品进行的PCR-STR分析揭示了七个STR，其中检测到两个母本和一个父本等位基因。对HLA-B和HLA-C分型的回顾性人工解释显示，确确实实的弱反应归因于父系HLA-B和HLA-C等位基因，并且患者同时具有母体和一个母体等位基因。对患者的颊细胞样品进行HLA-B和HLA-C基因座的重新分型和STR分析，发现了预期的一种母体/一种母体等位基因模式。总之，要获得患者的HLA分型结果，必须将几种不同的分型方法和手动解释结合起来。

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