Wagner F F, Flegel W A
Abteilung Transfusionsmedizin, Universitätsklinikum Ulm, Ulm, Germany.
Blood. 2000 Jun 15;95(12):3662-8.
The Rh blood group antigens derive from 2 genes, RHD and RHCE, that are located at chromosomal position 1p34.1-1p36 (chromosome 1, short arm, region 3, band 4, subband 1, through band 6). In whites, a cde haplotype with a deletion of the whole RHD gene occurs with a frequency of approximately 40%. The relative position of the 2 RH genes and the location of the RHD deletion was previously unknown. A model has been developed for the RH locus using RHD- and RHCE-related nucleotide sequences deposited in nucleotide sequence databases along with polymerase chain reaction (PCR) and nucleotide sequencing. The open reading frames of both RH genes had opposite orientations. The 3' ends of the genes faced each other and were separated by about 30 000 base pair (bp) that contained the SMP1 gene. The RHD gene was flanked by 2 DNA segments, dubbed Rhesus boxes, with a length of approximately 9000 bp, 98.6% homology, and identical orientation. The Rhesus box contained the RHD deletion occurring within a stretch of 1463 bp of identity. PCR with sequence-specific priming (PCR-SSP) and PCR with restriction fragment length polymorphism (PCR-RFLP) were used for specific detection of the RHD deletion. The molecular structure of the RH gene locus explains the mechanisms for generating RHD/RHCE hybrid alleles and the RHD deletion. Specific detection of the RHD(-) genotype is now possible. (Blood. 2000;95:3662-3668)
Rh血型抗原来源于位于染色体1p34.1 - 1p36（染色体1，短臂，区域3，带4，亚带1至带6）的2个基因，即RHD和RHCE。在白人中，整个RHD基因缺失的cde单倍型出现频率约为40%。此前，这2个RH基因的相对位置以及RHD缺失的位置尚不清楚。利用核苷酸序列数据库中保存的与RHD和RHCE相关的核苷酸序列，结合聚合酶链反应（PCR）和核苷酸测序，已构建出RH基因座模型。两个RH基因的开放阅读框方向相反。基因的3'端相对，被包含SMP1基因的约30000个碱基对（bp）隔开。RHD基因两侧是2个被称为恒河猴盒的DNA片段，长度约为9000 bp，同源性为98.6%，方向相同。恒河猴盒包含一段1463 bp的相同序列内发生的RHD缺失。采用序列特异性引物PCR（PCR - SSP）和限制性片段长度多态性PCR（PCR - RFLP）对RHD缺失进行特异性检测。RH基因座的分子结构解释了产生RHD/RHCE杂交等位基因和RHD缺失的机制。现在可以对RHD(-)基因型进行特异性检测。（《血液》。2000年；95:3662 - 3668）
