Tournamille C, Le Van Kim C, Gane P, Cartron J P, Colin Y
Unité INSERM U76, Institut National de Transfusion Sanguine, Paris, France.
Hum Genet. 1995 Apr;95(4):407-10. doi: 10.1007/BF00208965.
The Duffy blood group antigens are carried by the erythrocyte membrane glycoprotein gpD, which has a molecular weight of 35-45 kDa and which has been recently cloned. In this report, we have determined, at the nucleic acid level, the molecular basis for the blood group Fya/Fyb polymorphism. The gpD cDNAs isolated by reverse transcription/polymerase chain reaction (RT-PCR) from Fy(a+b-) and Fy(a-b+) donors differed by only one base substitution (G131A) changing Gly to Asp at position 44 of the gpD protein. When expressed in simian Cos-7 cells, the Gy(a+b-) and Fy(a-b+) gpD cDNA produce cell surface proteins that react with the anti-Fya and anti-Fyb antisera, respectively, demonstrating that they represent the FYA and FYB alleles of the Duffy blood group locus. The G131A nucleotide substitution has been correlated with a BanI restriction site polymorphism, which has allowed us to develop a method for the DNA typing of the main Duffy blood group antigens, by means of PCR/restriction fragment length polymorphisms.
达菲血型抗原由红细胞膜糖蛋白gpD携带，其分子量为35 - 45 kDa，最近已被克隆。在本报告中，我们在核酸水平上确定了血型Fya/Fyb多态性的分子基础。通过逆转录/聚合酶链反应（RT-PCR）从Fy(a + b -)和Fy(a - b +)供体中分离出的gpD cDNA仅相差一个碱基替换（G131A），该替换使gpD蛋白第44位的甘氨酸变为天冬氨酸。当在猴Cos - 7细胞中表达时，Fy(a + b -)和Fy(a - b +)的gpD cDNA分别产生与抗Fya和抗Fyb抗血清反应的细胞表面蛋白，表明它们代表达菲血型位点的FYA和FYB等位基因。G131A核苷酸替换与一个BanI限制性位点多态性相关，这使我们能够通过PCR/限制性片段长度多态性开发一种对主要达菲血型抗原进行DNA分型的方法。
