Hermand P, Gane P, Mattei M G, Sistonen P, Cartron J P, Bailly P
INSERM U76, INTS, Paris, France.
Blood. 1995 Aug 15;86(4):1590-4.
The Landsteiner-Wiener (LW) blood group antigens reside on a 42-kD erythrocyte membrane glycoprotein that has recently been cloned. Here, we found that the molecular basis for the LWa/LWb polymorphism is determined by a single base pair mutation (A308G) that correlates with a Pvu II restriction site and results in a Gln70Arg amino acid substitution. COS-7 cells transfected with LWa or LWb cDNAs reacted with human anti-LWa and anti-LWb sera, respectively, as well as with a murine monoclonal anti-LWab antibody, as shown by flow cytometry analysis. Moreover, a 42-kD protein was immunoprecipitated from the transfected cells with the monoclonal anti-LWab antibody. These findings indicate that LWa and LWb are alleles of the LW blood group locus as defined also by a monoclonal anti-LWab of nonhuman origin. In addition, the LW locus has been assigned to chromosome 19p13.3 by in situ hybridization. Study by Southern blot analysis indicated also that the LW locus is composed of a single gene that was not grossly rearranged in rare LW(a-b-) and Rhnull individuals deficient for LW antigens. In addition, Pvu II restriction fragment-length polymorphism analysis indicated that these variants were all homozygous for a phenotypically silent LWa allele.
兰斯泰纳-维纳（LW）血型抗原存在于一种最近已被克隆的42-kD红细胞膜糖蛋白上。在此，我们发现LWa/LWb多态性的分子基础由一个与Pvu II限制性位点相关的单碱基对突变（A308G）决定，该突变导致了Gln70Arg氨基酸替换。如流式细胞术分析所示，用LWa或LWb cDNA转染的COS-7细胞分别与人抗LWa和抗LWb血清以及鼠单克隆抗LWab抗体发生反应。此外，用单克隆抗LWab抗体从转染细胞中免疫沉淀出一种42-kD蛋白。这些发现表明，LWa和LWb是LW血型位点的等位基因，这一点也由非人类来源的单克隆抗LWab所定义。此外，通过原位杂交已将LW位点定位于19号染色体p13.3。Southern印迹分析研究还表明，LW位点由单个基因组成，在罕见的缺乏LW抗原的LW(a-b-)和Rh阴性个体中该基因没有明显重排。此外，Pvu II限制性片段长度多态性分析表明，这些变体对于表型沉默的LWa等位基因均为纯合子。
