caa a22 4500 469033851 CHVBK 20180323132751.0 cr unu---uuuuu 170328e19920601xx s 000 0 eng 10.1007/BF00215283 doi (NATIONALLICENCE)springer-10.1007/BF00215283 Strong associations between RFLP and protein polymorphisms for CD46 [Elektronische Daten] [Alan Wilton, Ricky Johnstone, Ian McKenzie, Damian Purcell] Human CD46 (membrane cofactor protein) is a cell surface glycoprotein with cofactor activity for the factor I mediated cleavage of components C3b and C4b. Using a CD46 cDNA clone, three restriction enzymes give simple two allele restriction fragment length polymorphisms (RFLPs) in samples of over 300 Caucasians. For Pvu II, P1 with a 16.5 kilobase (kb) fragment and P2 with 14.8 kb + 1.9 kb fragments have frequencies of .40 and .60. For Hin dIII, H1 with a 4.3 kb fragment and H2 with a 2.3 kb fragment have similar frequencies. For Bgl. II, B1 with a 10 kb fragment and B2 with 8.3 kb + 1.8 kb fragments have frequencies of 0.08 and 0.92. There is strong linkage disequilibrium between these polymorphic sites. Designating haplotypes by Hin dIII, Pvu II, Bgl II alleles, there are two common haplotypes P2, H2, B2 and P1, H1, B2, expected at frequencies of .6 and .32, one less common haplotype P1, H1, B1 expected at a frequency .08. The two major protein isoforms of CD46, as detected on peripheral blood lymphocytes by western blot, of M r 66 000 (α) and 56 000 (β) are determined by differential splicing in production of the mRNA. A strong association between protein isoform and RFLP haplotypes in 30 unrelated subjects suggests that the splicing preference site is in linkage disequilibrium with the RFLPs. The results are consistent with haplotypes P2, H2, B2 and P1, H1, B1 producing predominantly α; P1, H1, B2 producing predominantly β in about 72% of cases and α in 28% of cases. Springer-Verlag, 1992 Wilton Alan School of Biological Sciences, Macquarie University, 2109, NSW, Australia aut Johnstone Ricky Austin Research Institute, Austin Hospital, 3084, Heidelberg, Victorai, Australia aut McKenzie Ian Austin Research Institute, Austin Hospital, 3084, Heidelberg, Victorai, Australia aut Purcell Damian Austin Research Institute, Austin Hospital, 3084, Heidelberg, Victorai, Australia aut Immunogenetics Springer-Verlag 36/2(1992-06-01), 79-85 0093-7711 36:2<79 1992 36 251 https://doi.org/10.1007/BF00215283 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00215283 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Wilton Alan School of Biological Sciences, Macquarie University, 2109, NSW, Australia aut NATIONALLICENCE 700 1- Johnstone Ricky Austin Research Institute, Austin Hospital, 3084, Heidelberg, Victorai, Australia aut NATIONALLICENCE 700 1- McKenzie Ian Austin Research Institute, Austin Hospital, 3084, Heidelberg, Victorai, Australia aut NATIONALLICENCE 700 1- Purcell Damian Austin Research Institute, Austin Hospital, 3084, Heidelberg, Victorai, Australia aut NATIONALLICENCE 773 0- Immunogenetics Springer-Verlag 36/2(1992-06-01), 79-85 0093-7711 36:2<79 1992 36 251 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer