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Segregation analysis of informative families for chromosome 6 markers confirmed the map order GLO--Bf--HLA-(B, C)--HLA-A, and, surprisingly, implies that PGM3 is more probably located on the HLA-A than on the HLA-B side of the linkage group. Therefore the map position of PGM3 should be reconsidered, i.e., more informative families should be tested for all the relevant marker loci available.
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The human insulin receptor exists in two isoforms (HIR-A alpha-subunit 719 amino acids and HIR-B alpha-subunit 731 amino acids) which are generated by alternative splicing of a small exon and display distinct patterns of tissue-specific expression. Using the polymerase chain reaction we have recently shown that skeletal muscle of non-diabetic individuals contains predominantly mRNA encoding HIR-A while in skeletal muscle derived from subjects with Type 2 (non-insulin-dependent) diabetes mellitus similar amounts of each mRNA are expressed. We used a polyclonal antibody which discriminates between HIR-A and HIR-B to assess the isoform expression at the protein level. The antibody showed clearly distinct displacement of insulin binding in skeletal muscle membranes of non-diabetic subjects compared to Type 2 diabetic subjects (displacement of specific 125I-insulin binding: 13 non-diabetic subjects 70.0% +/- 14.34, 12 Type 2 diabetic subjects 32.6% +/- 17.45). A control antibody which does not discriminate between both isoforms showed similar displacement of 125I-insulin in membranes of non-diabetic and Type 2 diabetic subjects. These data suggest that the altered expression of receptor isotype mRNA in the skeletal muscle of Type 2 diabetic subjects leads to an altered receptor isoform pattern in the plasma membrane. While skeletal muscle membranes of non-diabetic subjects contain predominantly HIR-A, membranes of Type 2 diabetic subjects show an increased level of HIR-B in addition to HIR-A.
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Lattice dystrophy of the cornea is reported in 4 families. For purposes of linkage analysis we did serological tests on pertinent family members, including marker testing of the blood group systems ABO, MNSs, Rh, K, Ky, and P; protein group systems Hp, Ge, Gm, and Inv; and enzyme polymorphisms SEP, PGM, ADA, and AK.
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The influences of phenobarbital (PB) on enzymes of the carbohydrate metabolism in rat liver are examined during pre- and postnatal development. The following results are obtained: (1) PB generally increases G-6-Pase before and after birth. (2) Both the active and the inactive forms of phosphorylase are increased significantly during the prenatal periods. During the postnatal periods, mainly the active form of phosphorylase is influenced by PB. (3) Total glycogen synthetase is increased by PB during prenatal development but decreased during postnatal development. (4) The activity of alpha-glucosidase is increased during the prenatal period. (5) The activity of F-6-PK and 6-PGDH are decreased during the prenatal periods and G-6-PDH activity is decreased during both pre- and postnatal periods.
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Natural populations of Fundulus heteroclitus show extensive spatial variation in gene frequencies at four unlinked polymorphic loci. Large clinal changes in gene frequencies were found for Ldh-B, Mdh-A, and Gpi-B, whereas the spatial variation for the Pgm-B locus was small. Since the geographical area over which these clines are found is characterized by a steep thermal gradient, the clines in gene frequency are correlated with a directional change in mean water temperature. Maximum gene diversity of these four loci was correlated with annual fluctuations in water temperature. Temporal stability of the allelic frequencies was established for a 2--4 year period.
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The ratio of cellular RNA and protein content is about 1:1 between phylogenetically diploid and tetraploid species of the teleost family Cyprinidae, but is roughly in proportion to ploidy in species of the teleost order Isospondyli. Enzyme activities do not unequivocally comply with this scheme. These findings are discussed in view of the hypothesis that a regulatory mechanism which reduces genic activity has evolved in the tetraploid cyprinids but not in the tetraploid species of the order Isopondyli.
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The average mobility of electromorphs at an enzyme locus in a single population was defined as the weighted average mobility of the electromorphs in that population, where the electromorph frequencies are the weights. A derivative distance measure was defined whose taxonomic utility was determined in the Drosophila mulleri species complex. Most of the variation in this metric was at the interspecific level, primarily among clusters of sibling species. The electromorphs of some loci were equally and regularly spaced, while those of other loci were less regular in their spacing. Overall, these minor perturbations from regular spacing did not noticeably detract from the taxonomic utility of average mobility, and cluster analysis yielded the same taxonomic relationships as more conventional nonmolecular treatments. On the other hand, electromorph spacing may be related to functional constraints on the enzyme molecules. Some possible implications of the results for the modes of selection during evolution of the different enzymes are discussed.