輸血醫學的精準醫療：以次世代定序作血型配對

Precision Medicine in Transfusion Medicine: Blood Group Matching with Next-Generation Sequencing

吳秉純(Ping-Chun Wu) ； 林盈宏(Yin-Hung Lin) ； 陳沛隆(Pei-Lung Chen) ； 陳明鴻(Ming-Hung Chen) ； 白舜仲(Shun-Chung Pai) ； 侯勝茂(Sheng-Mou Hou)

《台灣醫學》 24卷2期 (2020/03) Pp. 197-206

https://doi.org/10.6320/FJM.202003_24(2).0010

摘要

在輸血醫學領域，可以藉由輸血前病人及捐血人的延伸血型配對，達到個人化及精準化醫療的具體實行。全面的抗原檢測有助於延伸配對（extended matching），在血清學試劑的不足與一般基因檢測的檢測限制下，次世代定序（next-generation sequencing, NGS）適合作為全面血型的準確平台。此篇利用100個捐血人的檢體，以NGS進行分佈於16個血型系統之24個基因的檢測，其結果與血清學的一致率高達99.4%，並解決許多血清學判定不足的地方，例如微量鑲嵌型（microchimerism）、基因重組、新的變異位點等。另外還介紹目前以次世代定序作血型抗原檢測的相關發表與臨床重要意義，並討論台灣輸血醫學日後邁向精準化醫療的發展可能。

關鍵字

精準醫療 ； 次世代定序 ； 血型抗原 ； 延伸配對

並列摘要

In transfusion medicine, the extended matching of blood group antigens between patients and donors prior transfusion is the key to the practice of personalized and precision medicine. Full antigen typing of the red blood cells will facilitate such practice. To overcome the shortage of adequate antisera and limited genotyping platform for antigen testing, next-generation sequencing rise to be the suitable platform for full antigen testing with high accuracy. In this study, we demonstrated that when using the NGS for 100 donor samples, we managed to test for 24 blood group genes across 16 blood group systems with 99.4% accuracy. NGS also resolved serology discrepancy and was able to detect microchimerism, gene rearrangements and novel variants that contributed to antigen expression differences. We also summarized recent publication of NGS on blood group genotyping, discussed the clinical significance of each study and provide an outline for precision transfusion medicine practice in Taiwan.

並列關鍵字

precision medicine ； next-generation sequencing ； blood group antigen ； extended matching

參考文獻

Lasalle-Williams M, Nuss R, Le T, et al: Extended red blood cell antigen matching for transfusions in sickle cell disease: a review of a 14-year experience from a single center (CME). Transfusion 2011;51:1732-9.

Klein HG, Flegel WA, Natanson C: Red blood cell transfusion. JAMA 2015;314:1557.

Nadarajan V: Basic aspects, application and platforms currently available for molecular blood grouping of donor and patient population. ISBT Science Series 2018;13:353-8.

Denomme GA, Anani WQ, Avent ND, et al: Red cell genotyping precision medicine: a conference summary. Therapeutic Advances in Hematology 2017;8:277-91.

Cvejic A, Haer-Wigman L, Stephens JC, et al: SMIM1 underlies the Vel blood group and influences red blood cell traits. Nat Genet 2013;45:542-5.