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• W44014411 abstract "Research Article1 October 1985free access Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region. M.C. Carroll M.C. Carroll Search for more papers by this author A. Palsdottir A. Palsdottir Search for more papers by this author K.T. Belt K.T. Belt Search for more papers by this author R.R. Porter R.R. Porter Search for more papers by this author M.C. Carroll M.C. Carroll Search for more papers by this author A. Palsdottir A. Palsdottir Search for more papers by this author K.T. Belt K.T. Belt Search for more papers by this author R.R. Porter R.R. Porter Search for more papers by this author Author Information M.C. Carroll, A. Palsdottir, K.T. Belt and R.R. Porter The EMBO Journal (1985)4:2547-2552https://doi.org/10.1002/j.1460-2075.1985.tb03969.x PDFDownload PDF of article text and main figures. ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinked InMendeleyWechatReddit Figures & Info Molecular maps have been prepared of the HLA region on human chromosome 6 that includes the complement C4 and steroid 21-hydroxylase genes (21-OH), using DNA of individuals deficient (QO) in either of the two forms C4A or C4B. In all, 18 haplotypes with C4A QO were examined by Southern analysis and two had deletions of 28-30 kb that included both the C4A and 21-OHA genes. Of six C4B QO haplotypes, one had a deletion that included both the C4B and 21-OHA genes. Thus, some of the C4 null alleles are due to deletion of the gene but the majority in this sample are not. Deletion occurred in two common haplotypes suggesting that in the population as a whole, C4A deficiency is due to deletion in about one-half the C4A QO haplotypes. As duplication of C4A or C4B genes does occur, the possibility that unequal cross-over could explain the C4 deletion was examined by preparing cosmid clones from the DNA of an individual typed C4A QO. A cloned genomic fragment containing the single C4B gene was isolated and found to be similar to the homologous region of a cosmid from a normal individual carrying a C4A gene. This suggests that if a cross-over has occurred it is in a region where the two genes are identical. The biological significance of the rather frequent occurrence in the population of haplotypes with C4A or C4B deletion together with the accompanying deletion of the 21-OHA gene is discussed. Previous ArticleNext Article Volume 4Issue 101 October 1985In this issue RelatedDetailsLoading ..." @default.
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• W44014411 date "1985-10-01" @default.
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• W44014411 title "Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region." @default.
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• W44014411 doi "https://doi.org/10.1002/j.1460-2075.1985.tb03969.x" @default.
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