移码突变
Abcg2型
表型
等位基因
ABO血型系统
生物
遗传学
空等位基因
抗原
人类白细胞抗原
基因
免疫学
医学
运输机
ATP结合盒运输机
作者
Lilian Castilho,Marion E. Reid
出处
期刊:Immunohematology / American Red Cross
[Exeley, Inc.]
日期:2013-01-01
卷期号:29 (2): 63-68
被引量:22
标识
DOI:10.21307/immunohematology-2019-126
摘要
The JR blood group system (ISBT 032) consists of one antigen,Jra, which is of high prevalence in all populations. The rare Jr(a-) phenotype has been found mostly in Japanese and other Asian populations, but also in people of northern European ancestry, in Bedouin Arabs, and in one Mexican. Anti-Jra has caused transfusion reactions and is involved in hemolytic disease of the fetus and newborn. The Jra antigen is located on ABCG2 transporter, a multipass membrane glycoprotein (also known as the breast cancer resistance protein, BCRP), which is encoded by the ABCG2 gene on chromosome 4q22.1. The Jr(a-) phenotype mostly results from recessive inheritance of ABCG2 null alleles caused by frameshift or nonsense changes.
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