Crew Vanja Karamatic, Green Carole, Daniels Geoff
Bristol Institute for Transfusion Sciences, Bristol, UK.
Transfusion. 2003 Dec;43(12):1729-37. doi: 10.1111/j.0041-1132.2003.00600.x.
Lutheran is a complex blood group system consisting of 18 identified antigens. There are four pairs of allelic antigens, whereas others are independently expressed antigens of a high frequency. Lutheran antigens are carried by the Lutheran glycoproteins, which are a product of a single gene LU.
Genomic DNA from 21 individuals of 12 Lutheran phenotypes was used for PCR amplification of selected LU exons that were directly sequenced and compared to control DNA of a common Lutheran phenotype.
Lutheran phenotypes were mostly caused by single-nucleotide polymorphisms within LU, resulting in single amino acid changes. The following mutations were observed: in LU:-4, G524A, Arg175Gln; in LU:-5, G326A, Arg109His; in LU:-6,9, C824T, Ser275Phe; in LU:-8,14, T611A, Met204Lys; in LU:-13, three point mutations (C1340T, Ser447Leu, C1671T silent mutation for Ser557 and A1742T, Gln581Leu); in LU:-16, C679T, Arg227Cys; in LU:-17, G340A, Glu114Lys; and in LU:-20, C905T, Thr302Met. Two LU:-12 samples had differing results: one individual had a deletion 99GCGCTT, Arg34 and Leu35, whereas the second LU:-12 sample had a point mutation G419A, Arg140Gln.
The results revealed the genetic background of 11 Lutheran antigens and suggested their placement on the Lutheran glycoprotein.
路德血型系统是一个复杂的血型系统，由18种已确定的抗原组成。有四对等位基因抗原，而其他的是高频独立表达的抗原。路德抗原由路德糖蛋白携带，路德糖蛋白是单基因LU的产物。
从12种路德血型的21名个体中提取基因组DNA，用于对选定的LU外显子进行PCR扩增，然后直接测序，并与常见路德血型的对照DNA进行比较。
路德血型大多由LU基因内的单核苷酸多态性引起，导致单个氨基酸变化。观察到以下突变：在LU:-4中，G524A，导致Arg175Gln；在LU:-5中，G326A，导致Arg109His；在LU:-6,9中，C824T，导致Ser275Phe；在LU:-8,14中，T611A，导致Met204Lys；在LU:-13中，有三个点突变（C1340T，导致Ser447Leu；C1671T，Ser557的沉默突变；A1742T，导致Gln581Leu）；在LU:-16中，C679T，导致Arg227Cys；在LU:-17中，G340A，导致Glu114Lys；在LU:-20中，C905T，导致Thr302Met。两个LU:-12样本有不同结果：一个个体有99GCGCTT缺失，导致Arg34和Leu35缺失，而第二个LU:-12样本有一个点突变G419A，导致Arg140Gln。
结果揭示了11种路德抗原的遗传背景，并表明了它们在路德糖蛋白上的位置。
