Silvy M, Filosa L, Chiaroni J, Bailly P
Laboratoire d'hématologie moléculaire, Établissement français du sang (EFS) Alpes-Méditerranée, 207, boulevard Sainte-Marguerite, 13009 Marseille, France; UMR 7268 ADÉS Aix-Marseille université - EFS - CNRS, 13009 Marseille, France.
Laboratoire d'hématologie moléculaire, Établissement français du sang (EFS) Alpes-Méditerranée, 207, boulevard Sainte-Marguerite, 13009 Marseille, France.
Transfus Clin Biol. 2014 Dec;21(6):289-95. doi: 10.1016/j.tracli.2014.06.001. Epub 2014 Oct 16.
Current knowledge of the molecular basis of most blood groups enables genetic testing for blood groups to overcome the limitations of agglutination. A retrospective review was carried out on genotyping assays performed between 2011 and 2013.
The Molecular Hematology Laboratory of the EFS Alpes-Méditerranée implements commercially available tools (BioArray, Gen-Probe) and other techniques (TaqMan, tetra-primer ARMS-PCR, sequencing). It provides a high-level of expertise in molecular biology, complying with regulatory requirements and standards.
A total of 2382 genotyping assays was performed including 764 extended typings and 115 large extended typings essentially in cases involving multiple transfusion and suspected rare blood type. Phenotype discrepancies linked to the RH system accounted for 1501 genotypings. Discrepancies linked to the D and E were mainly related to an allele coding for weak antigen (weak D type 1, 2, 3 and EIV) while those linked to C, c and e antigens were related to an allele coding for a partial antigen (RN, ces(340), ceMo). A high prevalence of (C)ces haplotype in trans of a DAR allele was observed in Afro-Caribbean (54/62).
In transfusion medicine, red-cell genotyping can overcome the limitations of hemagglutination. It must be used only in situations where it provides a benefit either for the patient or resource management. For implementation of appropriate transfusional practices, this technique requires a sound knowledge of the genetic characteristics of blood groups and clinically relevant variants. It also requires competency with molecular biology tools and continuously updated scientific data.
目前大多数血型分子基础的知识使血型基因检测能够克服凝集反应的局限性。对2011年至2013年期间进行的基因分型检测进行了回顾性分析。
法国东南部地区输血中心地中海阿尔卑斯分子血液学实验室采用市售工具（BioArray、Gen-Probe）和其他技术（TaqMan、四引物扩增受阻突变系统PCR、测序）。它在分子生物学方面提供高水平的专业知识，符合监管要求和标准。
共进行了2382次基因分型检测，其中包括764次扩展分型和115次大型扩展分型，主要用于多次输血和疑似稀有血型的病例。与RH系统相关的表型差异占1501次基因分型。与D和E相关的差异主要与编码弱抗原的等位基因有关（弱D型1、2、3和EIV），而与C、c和e抗原相关的差异则与编码部分抗原的等位基因有关（RN、ces(340)、ceMo）。在非洲加勒比地区人群中观察到，DAR等位基因反式的（C）ces单倍型发生率很高（54/62）。
在输血医学中，红细胞基因分型可以克服血凝反应的局限性。它必须仅在对患者或资源管理有好处的情况下使用。为了实施适当的输血实践，这项技术需要对血型的遗传特征和临床相关变异有充分的了解。它还需要具备分子生物学工具的能力和不断更新的科学数据。
