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Biomedical subjects

A Siverts

Publications and source records attributed to A Siverts.

5 recordsLinked to original sources

A structural locus for coagulation factor XIIIA (F13A) is located distal to the HLA region on chromosome 6p in man.

Linkage between the locus for coagulation factor XIIIA (F13A) and HLA-region genes has been revealed during a linkage study between F13A and approximately 40 other polymorphic marker genes. In males, the maximum lod score between F13A and HLA-region genes (HLA-A, -C, -B, -DR; C4A, -B; Bf; and/or C2) is 7.60 at theta 1 = .18. To GLO, the maximum lod score is 2.37 at theta 1 = .19; to PGM3, .22 at theta 1 = .35. Female data indicate a clear sex difference in recombination frequency between F13A and HLA. The present findings, in combination with earlier knowledge of PGM3/GLO/HLA localization and gene distances, show that F13A is distal to HLA on the short arm of chromosome 6 in man. It is thus likely that by including FXIIIA typing in linkage studies, the whole male 6p is within mapping distance of highly polymorphic, classical marker genes. Earlier findings that the Hageman factor gene (F12) is located in the same chromosomal region may indicate the presence of a coagulation factor gene cluster in this region.

Chromosome Banding↗

The ESD polymorphism: further studies of the ESD2 and ESD5 allele products.

Electrofocusing and agarose electrophoresis techniques both reveal polymorphism of ESD2, which may be subdivided into two different proteins, coded for by genes allelic to EDS* 1. After agarose electrophoresis, ESD2 is slightly more anodally located than ESD5, while the latter is considerably more acidic as revealed by electrofocusing in polyacrylamide gel slabs. Family studies have confirmed that each of the allele products behave as Mendelian characters; and the gene frequencies in a Norwegian population material are about 0.08 and 0.02 for the ESD*2 and ESD*5 alleles, respectively.

Adult↗

Genetic linkage relation to the pepsinogen Pg5 locus.

Linkage relations between pepsinogen Pg5 and 28 genetic marker loci have been analyzed in Norwegian families. No strong hint of linkage was found. Linkage to Pg5 in males has been ruled out below 25% recombination for HLA and GPT, below 20% recombination for Rh, PGM1, ACP, Gc, MNSs, PGM3, and Gm and Pi, below 15% recombination for Hp, below 10% recombination for Fy, ABO, C3 and Jk and below 4% for Kell, Tf, C6, Km and Le(Se). Possibilities of loose linkages include Pg5-C6 and Pg5-MNSs, both of which should be followed up.

Chromosome Mapping↗