By Prof. Dr. Wolfgang Dahr, John Moulds, Phyllis Unger, Dominique Blanchard (auth.), Prof. Dr. med. B. Brinkmann, Dr. med. Klavs Henningsen (eds.)
Read Online or Download 11th Congress of the Society for Forensic Haemogenetics (Gesellschaft für forensische Blutgruppenkunde e.V.): Copenhagen, August 6–10, 1985 PDF
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Extra info for 11th Congress of the Society for Forensic Haemogenetics (Gesellschaft für forensische Blutgruppenkunde e.V.): Copenhagen, August 6–10, 1985
Department of Obstetrics and Gynecology, Copenhagen Municipal Hospital in Hvidovre, Copenhagen, Denmark. I Forensic Medicine prenatal HLA-determination of the fetus supports a paternity diagnosis. In Medical Ge- netics one important aspect is prenatal diagnosis of congenital adrenal hyperplasia, as there is a close linkage between the HLA-B locus and a deficiency in 2l-hydroxylase. Furthermore prenatal HLA-determination is of interest in relation to transplantation immunology. We have elaborated methods for culture of amniotic fluid cells and villus cells for HLA-determination.
The reactive site of this inhibitor is crucially dependent upon a methionin residue at position 358, 37 residues from the C terminus. The main function of u j antitrypsin is not really to be an antitrypsin but to De an inhibitor for elastase from leucocytes. The S, Z and Pittsburgh variants are important from a clinical point of view. Fortunately, the Pittsburgh variant, which gives rise to intractable bleeding, is rare indeed. These variants are caused by single amino acid substitutions as shown below.
The polymorphic variants of serum proteins and of other immunogenetic systems which we hitherto study are, of course, ascribable to nucleotide variation in the corresponding exons. The introns are not expressed, but are cut out in messenger RNA production. Hybridization between messenger RNA and single-stranded DNA demonstrates that very substantial parts of DNA are not translated (see Chambon 1981). For a majority of genes the base pairs of the introns is twice or more the base number of the exons (see for example Efstratiadis et al 1980).