Rh Laboratory, Department of Pediatrics and Child Health, Faculty of Medicine, University of Manitoba, Winnipeg, Canada.
Nat Genet. 2012 Jan 15;44(2):131-2. doi: 10.1038/ng.1075.
The high-incidence erythrocyte blood group antigen Jr(a) has been known in transfusion medicine for over 40 years. To identify the gene encoding Jr(a), we performed SNP analysis of genomic DNA from six Jr(a-) individuals. All individuals shared a homozygous region of 397,000 bp at chromosome 4q22.1 that contained the gene ABCG2, and DNA sequence analysis showed that ABCG2 null alleles define the Jr(a-) phenotype.
红细胞血型抗原 Jr(a)高发已在输血医学领域存在超过 40 年。为了鉴定编码 Jr(a)的基因，我们对 6 名 Jr(a-)个体的基因组 DNA 进行了 SNP 分析。所有个体在染色体 4q22.1 上共享一个 397000bp 的纯合区域，该区域包含 ABCG2 基因，DNA 序列分析表明 ABCG2 无效等位基因定义了 Jr(a-)表型。
