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Biomedical subjects

S Bissbort

Publications and source records attributed to S Bissbort.

At least 37 records · Page 2Linked to original sources
PubMed1987

Linkage relationship between the genes for adenosine deaminase and S-adenosyl-homocysteine hydrolase on human chromosome 20.

The genes for adenosine deaminase (ADA) and S-adenosyl homocysteine hydrolase (AHCY or SAHH) are known to be syntenic and within measurable distance from each other, on chromosome 20 in man. In the present study an informative family is described in which the recombination fraction (theta) between the respective genes is estimated to be about 0.18. Together with the published finding of theta = 0.15 (Eiberg and Mohr 1985) in informative Danish families, the recombination fraction for the pooled data is calculated to be theta = 0.14 (in men), theta = 0.08 (in women) and theta = 0.13 (both sexes taken together).

Adenosine Deaminase↗
PubMed1987

Linkage studies in a pedigree with Van der Woude syndrome.

A kindred segregating for Van der Woude syndrome (VWS) through five generations is described. Biochemical and serological phenotypes at 36 polymorphic marker loci have been determined, of which 27 were informative for linkage analysis to the VWS gene (LIPED 3 computer programme). Lod scores are reported and show exclusion of close linkage for most of the marker loci. Only VWS:Duffy (Fy) resulted in uniformly positive lod scores (theta = 0.0, z(theta) = 1.31).

Cleft Lip↗
PubMed1986

Genetic variation of an acid phosphatase (Acp-2) in the laboratory rat: possible homology with mouse AP-1 and human ACP2.

A genetic locus controlling the electrophoretic mobility of an acid phosphatase in the rat (Rattus norvegicus) is described. The locus, designed Acp-2, is not expressed in erythrocytes but is expressed in all other tissues studied. The product of Acp-2 hydrolyzes a wide variety of phosphate monoesters and is inhibited by L(+)-tartaric acid. Inbred rat strains have fixed either allele Acp-2a or allele Acp-2b. Codominant expression is observed in the respective F1 hybrids. Backcross progenies revealed the expected 1:1 segregation ratio. Possible loose linkage was found between the Acp-2 and the Pep-3 gene loci at a recombination frequency of 0.36 +/- 0.06.

Acid Phosphatase↗
PubMed1983

Genetics of human S-adenosylhomocysteine hydrolase. A new polymorphism in man.

A specific staining procedure for the demonstration of S-adenosylhomocysteine hydrolase (SAHH, EC 3.3.1.1) is given. The enzyme has a broad tissue distribution and is also present in erythrocytes. The SAHH gene is polymorphic in the population of southwest Germany with two common alleles: SAHH*1 = 0.96 and SAHH*2 = 0.04. Family studies resulted in the expected segregation ratios. No evidence for close linkage with a total of 25 marker loci was found. But information from human mouse somatic-cell hybrids led to the localization of the SAHH gene to human chromosome 20, thereby confirming the findings of Hershfield and Francke (1982).

Adenosylhomocysteinase↗
PubMed1983

Genetic linkage relations of the human plasminogen gene.

No evidence for close linkage was found between the human plasminogen (PLGN) locus and 35 other marker genes using the LIPED 3 computer program of Ott (1974). Although positive lod scores were found for PLGN-GC relations in females, the lack of linkage between the two loci in males demands that the reported assignment of the PLGN locus to chromosome 4 (Eiberg et al. 1981) should be considered with reservations.

Female↗
PubMed1983

C6 linkage studies.

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Chromosome Mapping↗
PubMed1983

On regional mapping of human chromosome 6. Review and own findings.

In addition to the committee Reports on the Constitution of Chromosome 6 also the mapping contributions from patients with no. 6 imbalances were added to the scheme. Moreover own PGM 3 : GLO : HLA linkage data are given. The controversially discussed gene order of these three loci was analysed from appropriate backcross families. The most likely gene order is HLA-A, C, B : BF (C2, C4) : HLA-D/DR : GLO (all at about 6p 21-p22) : 6 ph (centromer) : PGM3 (6q12): ME 1 (6q12-q15) : SOD 2 (6q21).

Chromosome Mapping↗
PubMed1978

PGM1 subtyping by means of acid starch gel electrophoresis.

'PGM1 subtyping' can be clearly demonstrated by horizontal electrophoresis in acid starch gel. Because of the different cathodal mobilities of PGM1-gene products, the allelic superscripts for PGM1 were designated as 1F, 1S, and 2F, 2S, respectively. Gene frequencies of a population sample from Southwestern Germany are presented. They fit in well with other, previously published data on this matter.

Electrophoresis, Starch Gel↗
PubMed1978

Mapping of the linkage group GLO--Bf--HLA-B,C,A--PGM3. 1. Recombination frequencies.

This study confirms close linkage for the GLO--Bf--HLA-B,C,A complex, and proves linkage between the MHC loci and PGM3. For GLO--PGM3 and Bf--PGM3, respectively, loose linkage seems to be likely, and close linkage can be excluded. Our mapping data on chromosome 6 favor the hypothesis that the PGM3 locus is situated on the HLA-A side of the MHC complex. Yet fine-structure mapping should be confirmed only by segregation analyses in crossover families by testing simultaneously all of the relevant marker loci within uniform family material.

Chromosome Mapping↗
PubMed1978

Mapping of the linkage group GLO--Bf--HLA-B,C,A--PGM3. 2. Segregation analysis.

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.

Chromosome Mapping↗
PubMed1977

Map order of the linkage group GLO-Bf-HLA-A-PGM3 on human chromosome 6.

Linkage analysis of 52 families with 181 children confirms close linkage for GLO-Bf, GLO-HLA-A, and Bf-HLA-A and proves linkage between HLA-A and PGM3. Linkage for Bf-PGM3 and GLO-PGM3, respectively, seems to be likely; close linkage can be excluded. From the relative map distances, but above all from the segregation of defined linkage phases in crossover families, we can hypothesize that the sequence order of the loci should be GLO-Bf-HLA-A-PGM3.

Chromosome Mapping↗
PubMed1976

Possible linkage of HL-A and GLO.

In 21 informative families with 60 children, a possible linkage between HL-A and GLO was found (recombination fraction approximatively 0.15). The sequence of the loci on chromosome 6 might be GLO, HL-A, PGM3, MNSs.

Adult↗
PubMed1975

Confirmation of the linkage HL-A/PGM3.

In a series of 42 families with 101 children the linkage between HL-A and PGM3 could be confirmed (most likely recombination fraction for male equals 0.15).

Female↗