A variant RhAG protein encoded by the RHAG*572A allele causes serological weak D expression while maintaining normal RhCE phenotypes
A variant RhAG protein encoded by the RHAG*572A allele causes serological weak D expression while maintaining normal RhCE phenotypes
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DOI：
10.1111/trf.14969
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发表时间：
2018-10
期刊：
影响因子：
2.9
通讯作者：
J. Wen;O. Verhagen;Shuangshuang Jia;Qianni Liang;Zhen Wang;Ling Wei;Hong Luo;G. Luo;G. Vidarsson;E. Akker;Yanli Ji;C. E. Schoot
中科院分区：
文献类型：
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作者：
J. Wen;O. Verhagen;Shuangshuang Jia;Qianni Liang;Zhen Wang;Ling Wei;Hong Luo;G. Luo;G. Vidarsson;E. Akker;Yanli Ji;C. E. Schoot
导致弱 D 表型的分子事件包括 RHD 基因和杂合 RHD-CE-D 杂合等位基因的错义突变、框内插入或缺失突变。 Rh 蛋白正确膜表达所需的蛋白质（例如 RhAG 和锚蛋白 1）编码基因的突变可能导致 Rh 抗原表达缺失或减弱。
The molecular events resulting in a weak D phenotype include missense mutations, in‐frame insertion, or deletion mutations of the RHD gene and hybrid RHD‐CE‐D hybrid alleles. Mutations in genes encoding the proteins that are required for proper membrane expression of Rh proteins, such as RhAG and ankyrin 1, can lead to absent or weakened expression of Rh antigens.