对编码Rh多肽的网织红细胞mRNA衍生的cDNA进行序列分析，并证实E/e和C/c多态性。

Sequence analysis of cDNA derived from reticulocyte mRNAs coding for Rh polypeptides and demonstration of E/e and C/c polymorphisms.

作者信息

Simsek S, de Jong C A, Cuijpers H T, Bleeker P M, Westers T M, Overbeeke M A, Goldschmeding R, van der Schoot C E, von dem Borne A E

机构信息

Department of Immunologic Haematology, Central Laboratory of The Netherlands Red Cross Blood Transfusion Service, Amsterdam.

出版信息

Vox Sang. 1994;67(2):203-9. doi: 10.1111/j.1423-0410.1994.tb01661.x.

DOI:10.1111/j.1423-0410.1994.tb01661.x

PMID:7801613

Abstract

RNA derived from enriched reticulocytes of Rh-phenotyped donors was isolated, reversely transcribed into cDNA and amplified with Rh-specific primers by polymerase chain reaction. Nucleotide sequence analysis of the entire coding region of the Rh cDNAs was carried out. Four types of cDNAs were identified, tentatively designated as RhSCI, RhSCII, RhSCIII and RhSCIV. Comparison of RhSCII with RhSCI (identical to the previously reported RhIXb/30A cDNA), showed single base pair difference. Since RhSCI and RhSCII were found to be related to the presence of E or e antigen, respectively, the P226A amino acid polymorphism appears to be the genetic basis of the E/e polymorphism. RhSCIII was demonstrated to be a transcript derived from the RhD gene, with 35 amino acid substitutions as compared to RhSCI. RhSCIV was found to be present only in RhC-positive individuals, indicating that RhSCIV encodes a polypeptide carrying the C antigen. Six nucleotide changes, resulting in four amino acid substitutions W16C, L60I, N68S and P103S, were observed between RhSCII and RhSCIV, probably representing the C/c polymorphism.

摘要

从经Rh血型分型的供体的富网织红细胞中提取RNA，逆转录成cDNA，并通过聚合酶链反应使用Rh特异性引物进行扩增。对Rh cDNA的整个编码区进行核苷酸序列分析。鉴定出四种类型的cDNA，暂定为RhSCI、RhSCII、RhSCIII和RhSCIV。RhSCII与RhSCI（与先前报道的RhIXb/30A cDNA相同）比较，显示单碱基对差异。由于发现RhSCI和RhSCII分别与E或e抗原的存在有关，P226A氨基酸多态性似乎是E/e多态性的遗传基础。RhSCIII被证明是源自RhD基因的转录本，与RhSCI相比有35个氨基酸替换。RhSCIV仅在RhC阳性个体中存在，表明RhSCIV编码携带C抗原的多肽。在RhSCII和RhSCIV之间观察到六个核苷酸变化，导致四个氨基酸替换W16C、L60I、N68S和P103S，可能代表C/c多态性。