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“OMICs”揭示了罕见血型的分子基础。

"OMICs" reveal the molecular basis of a rare blood group.

机构信息

St. Jude Children's Research Hospital.

出版信息

Blood. 2020 Feb 6;135(6):396-397. doi: 10.1182/blood.2019004603.

Abstract

Blood groups are defined by membrane proteins that are either single-pass, multi-pass, or glycosylphosphatidylinositol-linked proteins. The antigens defining the blood groups can be either the proteins themselves or the complexes of sugars that decorate these membrane proteins. For antigens that are present at high frequency on red blood cells, transfusion incompatibility problems, due to the absence of undefined blood group antigens, may cause difficulty in finding matching blood. This transfusion complication can only be remedied when the identity of the blood group antigen is discovered. In this issue of , Azouzi et al, using a combination of complementary “omic” approaches, reveal the molecular identity of a rare blood group (PEL) that was first reported almost 40 years ago by Daniels et al, the high frequency antigen, ABCC4 (an ATP-binding cassette [ABC]-transporter).

摘要

血型是由膜蛋白定义的,这些蛋白要么是单次跨膜、多次跨膜,要么是糖基磷脂酰肌醇连接蛋白。定义血型的抗原可以是蛋白质本身,也可以是这些膜蛋白上糖的复合物。对于在红细胞上高频出现的抗原,如果由于缺乏未定义的血型抗原而导致输血不相容性问题,可能会在寻找匹配血液时遇到困难。只有当发现血型抗原的身份时,才能解决这种输血并发症。在本期的《自然-遗传学》杂志上,Azouzi 等人采用了互补的“组学”方法,揭示了一种罕见血型(PEL)的分子特征,该血型是由 Daniels 等人首次报道的,其高频抗原为 ABCC4(一种 ATP 结合盒 [ABC] 转运蛋白)。

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本文引用的文献

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