The genetic linkage between the PKU locus and the loci for Amylase1, Amylase2, Fy,PGM1, and Rh and the question of assignment of the PKU locus to chromosome No. 1

Summary The alpha-amylase loci Amy₁ and Amy₂ and other loci on chromosome 1 were investigated for their linkage relationship to the PKU locus. Ten families were informative for the study of linkage between PKU/Amy, 20 for PKU-Fy, 11 for PKU/PGM₁, and 10 for PKU/Rh linkage. The probabilities of linkage at different recombinant fractions were calculated according to Bayes' theorem. The results are in striking contrast with those of Kamaryt et al. who found strong evidence for close linkage between the amylase loci and the PKU locus, whereas with our results close linkage can be excluded; loose linkage is possible but unlikely. The results are discussed with regard to the genetic heterogeneity of phenylketonuria.     

Confirmation of the assignment of MYCL to chromosome 1 in humans and its position relative to RH, UMPK, and PGM1

Data from family studies demonstrating RH:MYCL linkage (zeta = 4.07 at theta = 0.09) in paternal meioses are presented. Although positive, MYCL:PGM1 lods are not of the magnitude of those for RH:MYCL. Taken together, these results are consistent with the physical assignment of MYCL to 1p32. Furthermore, evidence to support the order RH-MYCL-UMPK-PGM1 is detailed.     

AK, PGM1 and 6PGD polymorphisms in Central Sardinia

Adenylate kinase (AK), phosphoglucomutase (PGM1) and 6-phosphogluconate dehydrogenase (6PGD) polymorphisms were investigated in a sample of individuals from Central Sardinia. The gene frequencies were: AK1 = 0.973, PGM1(1) = 0.842 and PGDA = 0.969. The frequencies were compared with those of other Italian populations.     

Chromosome no. 1 of man and chimpanzee: identity of gene mapping for three loci: PPH, PGM1, and Pep-C.

Cytogenetic and biochemical analysis of 10 independant Chimpanzee-Mouse cell hybrids and of 18 subclones of one of these showed that PPH, PGM1 and Pep-C are localized on the Chimpanzee chromosome homologous to the human chromosome No. 1.     

Localization of the PGD and TGFβ-1 loci to pig chromosome 6q

The TGF beta-1 and PGD loci have been localized by in situ hybridization to the C-greater than q2.1 and q2.2 -greater than q2.5 regions of pig chromosome 6. These assignments confirm that the conversation of syntenic groups around GPI and PGD extends to pigs where these two groups are uniquely found to be linked. Our data also support the hypothesis that the porcine and human inherited malignant hyperthermia syndromes are caused by mutations in homologous genes which map to human chromosome 19q, porcine chromosome 6q and murine chromosome 7.     

Substrate affinity in PGM1, PGM2, and PGM3 isozymes

Summary An easy method for routine detection of PGM₁, PGM₂, and PGM₃ isozymes is given. Differences in substrate affinity are discussed. Gene products pgm₁ can be differentiated from gene products pgm₃ by cofactor requirement.     

The Chinese hamster gene map. Assignment of four genes (DTS, PGM2, 6PGD, EnoI) to chromosome 2

Mouse morulae and blastocysts express cell surface antigens that fortuitously cross-react with antisera to human chorionic gonadotropin (hCG). In the present study, the cell surface and cytoplasmic expression of these antigens was followed in mouse unfertilized oocytes, different stages of preimplantation embryos and in early post-implantation embryos cultured from blastocysts. In addition to their known stage-dependent cell surface expression on morulae and blastocysts, these antigens (1) were already present in the cytoplasm of mature unfertilized oocytes and pre-morula stages of embryos; (2) remained expressed as cell surface antigens on cells of the inner cell mass (ICM), but not on the surface of trophectodermal cells with further blastocyst development although (3) they persisted as cytoplasmic antigens in trophectodermal cells. In addition, these antigens were also detectable by antiserum to the alpha subunit of hCG.     

Absence of genetic linkage between A1BG, PGD and HPX loci in rabbits

Linkage relationships between A1BG, PGD, and HPX loci of rabbits were studied on segregation data in backcross matings. No sign of linkage between the three studied loci was found.     

Gene frequencies of the enzymes ALADH, GOT2, GPT, PGM3, SAHH and UMPK in a Swiss population

The polymorphisms of the enzymes ALADH, GOT2, GPT, PGM3, SAHH, and UMPK have been studied in a population of Northern Switzerland (Zürich). The results are compared with those of other European populations.     

Probable assignment of the serum cholinesterase (E1) and transferrin (Tf) loci to chromosome 1 in man.

Suggestions of linkage in males between the E1 and Rh loci (Z = + 1.849; THETA = 0.20) and between the Tf and Rh loci (Z = + 0.595; THETA = 0.35) are presented. The assignment of the E1 and Tf loci to chromosome 1 and the order Tf:E1:PGD:Rh:PGM1 are cautiously proposed.     

Genetic structure of the Mongols as derived from the ABO, MN, Rh, EsD, GLO1, PGM1, AcP, 6-PGD, Hp, Gc, Tf, C'3 and ChE2 loci

According to integral characterization of gene frequencies of the investigated loci AB0, MN, Rh, GLO1, PGM1, EsD, AcP, 6-PGD, Hp, Tf, Gc, C'3 and ChE2, Mongolian population has high level of polymorphism, with the exception of haplotypes R" (cdE) and Ry(CdE) at the Rh locus and TfB0-1 at the Tf locus. The data on biochemical and immunological polymorphic gene markers analysed in the population of Mongolia show that the Mongolians have some distinctive features, in comparison with the mean-in-the-world characteristics: high frequencies of the B genes at the AB0 locus; D, E, R1 and R2 at the Rh locus; GLO11, PGDc, TfDChi, E2(C5+), PGM1(1+); low frequencies of the genes A(AB0), R0(Rh), AcPc, Hp1, Gc2, C'3F, PGM 1(2-); the rest of the genes at the above-mentioned loci and the genes of the locus MN have the mean-in-the-world frequencies.