RHD gene deletion occurred in the Rhesus box.
RHD gene deletion occurred in the Rhesus box.
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DOI：
10.1182/blood.v95.12.3662
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发表时间：
2000-06
期刊：
影响因子：
20.3
通讯作者：
F. Wagner;W. Flegel
中科院分区：
文献类型：
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作者：
F. Wagner;W. Flegel
Rh血型抗原来源于2个基因，RHD和RHCE，位于染色体位置1p34.1-1p36（1号染色体，短臂，3区，4带，1亚带，至6带）。在白人中，整个RHD基因缺失的编码单倍型发生的频率约为40%。2个RH基因的相对位置和RHD缺失的位置以前是未知的。利用RHD和rhce相关的核苷酸序列，以及聚合酶链反应（PCR）和核苷酸测序，建立了RH位点的模型。RH基因的开放阅读框方向相反。基因的3′端彼此相对，相距约30000个碱基对（bp），其中含有SMP1基因。RHD基因两侧有2个DNA片段，称为Rhesus box，长度约为9000 bp，同源性为98.6%，取向相同。恒河猴盒中包含了发生在1463 bp身份范围内的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基因位点的分子结构解释了RHD/RHCE杂交等位基因的产生和RHD缺失的机制。RHD（-）基因型的特异性检测现在是可能的。(血。2000;95:3662 - 3668)
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)