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包括Rd在内的Scianna抗原由ERMAP表达。

Scianna antigens including Rd are expressed by ERMAP.

作者信息

Wagner Franz F, Poole Joyce, Flegel Willy A

机构信息

Department of Transfusion Medicine, University of Ulm, DRK (German Red Cross)-Blood Donation Service Baden-Württemberg-Hessen, Institute Ulm, Germany.

出版信息

Blood. 2003 Jan 15;101(2):752-7. doi: 10.1182/blood-2002-07-2064. Epub 2002 Aug 22.

Abstract

The Scianna blood group encompasses the high-frequency antigens Sc1 and Sc3 and the low-frequency antigen Sc2. Another low-frequency antigen Rd (Radin) was suggested to belong to the Scianna blood group. The molecular basis of the Scianna blood group was unknown. The erythrocyte membrane-associated protein (ERMAP) shared the genomic location, protein product size, and localization to the red blood cell (RBC) membrane surface with Scianna. The ERMAP gene was sequenced in probands with known Scianna and Radin phenotypes. In a Sc:-1,-2 proband, only an ERMAP allele with a 2-bp deletion in exon 3 causing a frameshift could be detected. A Sc:-1,2 proband was homozygous for the ERMAP(Gly57Arg) allele. An Rd(+) proband was heterozygous for the ERMAP(Pro60Ala) allele. Polymerase chain reaction with sequence-specific priming (PCR-SSP) systems was developed to detect the Sc2 and Rd alleles of the ERMAP gene. The 2 alleles occurred with about 1% and less than 1% frequency in the population, which was compatible with the frequency of the Sc2 and Rd antigens known in whites. Two Sc2(+) and one Rd(+) samples that were found by genotyping were confirmed by serology. The antigens of the Scianna blood group include Rd and are expressed by the human ERMAP protein. Sc2 is caused by an ERMAP(Gly57Arg) allele and Rd by an ERMAP(Pro60Ala) allele. Scianna is the last of the previously characterized protein-based blood group systems whose molecular basis was discerned. Hence, the phenotype prediction by genotyping became possible for all human blood group systems encoded by proteins.

摘要

斯恰纳血型包括高频抗原Sc1和Sc3以及低频抗原Sc2。另一种低频抗原Rd(雷丁)被认为属于斯恰纳血型。斯恰纳血型的分子基础尚不清楚。红细胞膜相关蛋白(ERMAP)与斯恰纳血型在基因组位置、蛋白质产物大小以及在红细胞(RBC)膜表面的定位方面具有一致性。对具有已知斯恰纳和雷丁血型表型的先证者的ERMAP基因进行了测序。在一个Sc:-1,-2先证者中,仅检测到一个外显子3中有2个碱基缺失导致移码的ERMAP等位基因。一个Sc:-1,2先证者是ERMAP(Gly57Arg)等位基因的纯合子。一个Rd(+)先证者是ERMAP(Pro60Ala)等位基因的杂合子。开发了序列特异性引物聚合酶链反应(PCR-SSP)系统来检测ERMAP基因的Sc2和Rd等位基因。这两个等位基因在人群中的出现频率分别约为1%和低于1%,这与白人中已知的Sc2和Rd抗原的频率相符。通过基因分型发现的两个Sc2(+)和一个Rd(+)样本经血清学证实。斯恰纳血型的抗原包括Rd,由人类ERMAP蛋白表达。Sc2由ERMAP(Gly57Arg)等位基因引起,Rd由ERMAP(Pro60Ala)等位基因引起。斯恰纳血型是先前已鉴定的基于蛋白质的血型系统中最后一个其分子基础被识别的。因此,对于所有由蛋白质编码的人类血型系统,通过基因分型进行表型预测成为可能。

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