Clinical Services and Research, Australian Red Cross Blood Service, Kelvin Grove, Queensland, Australia.
Br J Haematol. 2019 Mar;184(6):897-911. doi: 10.1111/bjh.15747. Epub 2019 Feb 1.
Blood group serology and single nucleotide polymorphism-based genotyping platforms are accurate but do not provide a comprehensive cover for all 36 blood group systems and do not cover the antigen diversity observed among population groups. This review examines the extent to which genomics is shaping blood group serology. Resources for genomics include the Human Reference Genome Sequence assembly; curated blood group tables listing variants; public databases providing information on genetic variants from world-wide studies; and massively parallel sequencing technologies. Blood group genomic studies span the spectrum, from bioinformatic data mining of huge data sets containing whole genome and whole exome information to laboratory investigations utilising targeted sequencing approaches. Blood group predictions based on genome sequencing and genomic studies are proving accurate, and have shown utility in both research and reference settings. Overall, studies confirm the potential for blood group genomics to reshape donor and patient transfusion management strategies to provide more compatible blood transfusions.
血型血清学和基于单核苷酸多态性的基因分型平台准确，但不能全面涵盖所有 36 个血型系统，也不能涵盖人群中观察到的抗原多样性。本综述探讨了基因组学在多大程度上影响了血型血清学。基因组学资源包括人类参考基因组序列组装；列出变体的精心整理的血型表；提供来自全球研究遗传变异信息的公共数据库；以及大规模平行测序技术。血型基因组研究涵盖了从包含全基因组和全外显子信息的大型数据集的生物信息学数据挖掘到利用靶向测序方法进行实验室研究的各个方面。基于基因组测序和基因组研究的血型预测被证明是准确的，并且在研究和参考环境中都具有实用性。总的来说，研究证实了血型基因组学有可能改变供者和患者输血管理策略，以提供更相容的输血。
