BamHI and EcoRI restriction fragment length polymorphisms at the glutathione S-transferase 3 locus.
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Chromosomes, Human, Pair 11↗
Biomedical subjects
M Coggan
Publications and source records attributed to M Coggan.
Localization of the coagulation factor XIII B subunit gene (F13B) to chromosome bands 1q31-32.1 and restriction fragment length polymorphism at the locus.
In situ hybridization of tritiated cDNA probes for the gene for the B subunit of coagulation factor XIII localized the F13B locus to bands q31-q32.1 on human chromosome 1 and perhaps more precisely to sub-bands 1q31.2 or 1q31.3. Restriction fragment length polymorphisms (RFLPs) were detected with BglII, EcoRI and XbaI. Because the RFLPs detected with each of the three enzymes were concordant in every individual studied and since each showed a similar size difference, it was concluded that the RFLPs probably result from an insertion or deletion of length approximately 0.37-0.4 kb.
Blotting, Southern↗
HLA A1, B8, DR3 extended haplotypes in autoimmune chronic hepatitis.
Genetic determinants of the autoimmune type of chronic active hepatitis include the major histocompatibility complex alleles HLA-B8 and HLA-DR3, which are usually present as the haplotype A1, B8, DR3. In certain other autoimmune diseases, an extended haplotype including complement alleles confers a greater relative risk than does B8, DR3. Hence, extended haplotypes were ascertained in autoimmune chronic active hepatitis by typing for HLA, complement alleles C4A, C4B, and Bf, and glyoxalase type 1 or 2. Eight of the 10 B8, DR3 haplotypes were A1, B8, DR3. Of the 8, 7 had the extended haplotype A1, B8, C4AQ0, C4B1, BfS, DR3, but this haplotype occurred in four instances with glyoxalase 2 and in three with glyoxalase 1. Thus, we find that in autoimmune chronic active hepatitis there is a high frequency of null alleles for complement but an extended haplotype does not cause any greater risk for disease than B8, DR3 alone.
Alleles↗
Isolation of a cDNA clone and localization of the human glutathione S-transferase 3 genes to chromosome bands 11q13 and 12q13-14.
A partial cDNA clone of the glutathione S-transferase 3 gene (GST3) was obtained by screening a lambda gt11 human lung cDNA library with antiserum to human lung GST3. The sequence of this cDNA showed two base differences from the coding sequence of a GST3 cDNA isolated from a human placental cDNA library. Hybridization of the cloned GST3 cDNA to human chromosomes resulted in a primary peak of grains over band 11q13, a localization predicted by prior experiments. An unexpected strong secondary peak of grains was obtained over bands 12q13 and 12q14, indicating that there is a GST3-like gene on the long arm of chromosome 12 in man.
Amino Acid Sequence↗
Haplotypes of the coagulation factor XIII A subunit locus in normal and deficient subjects.
Several RFLPs have been detected using a cDNA fragment encoding the amino-terminal half of the A subunit of factor XIII. The RFLPs show little linkage disequilibrium and form many different haplotypes that can be used to identify chromosomes transmitting factor XIII A subunit deficiency. Southern blot analysis of three deficient individuals from two families showed that, in these cases, factor XIII A subunit deficiency did not result from a major gene deletion or rearrangement. Factor XIII A subunit deficiency was found to be associated with three different haplotypes, suggesting heterogeneity in the mutations causing this disorder.
Cloning, Molecular↗
Electrophoretic and immunological analysis of human glutathione S-transferase isozymes.
Several electrophoretically distinct glutathione S-transferase isozymes from different tissues have been purified and characterized. The data confirm the suggestion that GST-1, GST-2 and GST-3 are the products of separate genetic loci. An apparently muscle-specific isozyme termed GST-4 has been identified and shown to differ structurally from GST-1, GST-2 and GST-3. It is likely that GST-4 is the product of an additional gene locus. Two isozymes termed GST-5 and GST-6 were purified from brain. GST-5 has a different isoelectric point, but shares many structural features with GST-1. GST-5 may be a brain-specific post-translationally modified product of the GST-1 gene. GST-6 is an acidic isozyme found in many tissues. The data indicate that GST-6 is composed of two dissimilar subunits that do not cross-react with antiserum directed against GST-1, GST-2 or GST-3. These observations therefore suggest that GST-6 may have an independent genetic origin.
Amino Acid Sequence↗
Genetic heterogeneity of S-formylglutathione hydrolase.
S-formylglutathione hydrolase from erythrocytes has been studied by an electrophoretic technique. Three phenotypes were observed in a number of racial groups. The electrophoretic polymorphism was shown to be the product of two alleles at a single locus termed FGH. The product of the type 2 allele was found to be relatively unstable.
Alleles↗
A fluorescent spot test for coagulation factor XIII.
A new method is described for the rapid detection of coagulation factor XIII. The technique utilizes the amine monodansylcadaverine in a fluorescent spot test. The method allows the checking of large numbers of samples during purification procedures. This test can also be used to diagnose factor XIII deficiency in plasma samples.
Cadaverine↗
Genetic heterogeneity of prothrombin (FII).
A new procedure for the electrophoresis and localization of prothrombin is described. This technique has revealed three allelic variants at the prothrombin structural locus (FII). One of these alleles (FII4) reaches polymorphic frequencies in some Pacific Island populations. Investigation of the activated products of the three variant prothrombins has demonstrated that, in each case, the structural variation is located on a profragment and not on the enzymically active thrombin molecule.
Alleles↗
Polymorphism of the A subunit of coagulation factor XIII in the Pacific region. Description of new phenotypes.
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Black People↗
An electrophoretic and quantitative analysis of coagulation factor XIII in normal and deficient subjects.
Previous electrophoretic studies of the A and B subunits of factor XIII have revealed considerably genetic heterogeneity. The present work investigates the electrophoretic forms and quantitates the A and B subunits in a family with inherited factor XIII deficiency. The data indicate that the deficiency in this family is due to a null allele at the locus controlling the A subunit. All family members were found to have decreased levels of B subunit. The data also indicate that there is no difference in thrombin activated transamidase activity between normal individuals with the three commonly occurring electrophoretic phenotypes of the A subunit.
Alleles↗
Ecological genetics of the wild rabbit in Australia. I. Geographical distribution and biochemical characterization of phosphogluconate dehydrogenase variants.
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Alleles↗