Search PubMed⌕ Search

Biomedical subjects

J Kömpf

Publications and source records attributed to J Kömpf.

At least 55 records · Page 3Linked to original sources
PubMed1980

Human phosphoglycolate phosphatase (PGP) E.C. 3.1.3.18: linkage analysis.

Linkage data on phosphoglycolate phosphatase (PGP) E.C. 3.1.3.18 and 26 other human genetic markers are presented. One hundred and one families from the southwestern area of Germany were tested. Close linkage between PGP and the following markers could be ruled out: ABO, acP, ADA, GPT, PGM1, GLO, HLA, and PGM3. There is some evidence for possible linkage with MNSs, Rh, Gm and EsD. Family segregation data confirm the hypothesis formerly established by Barker and Hopkinson: three common alleles PG1, PGP2 and PGP3 at an autosomal locus PGP.

Alleles↗
PubMed1980

Data on linkage relations between GLO and 21-hydroxylase.

Linkage between GLO and 21-hydroxylase was investigated in 11 families with 24 children. Positive lod score values with a maximum of +1.618 at theta = 0.05 indicate close linkage between these marker loci.

Adrenal Hyperplasia, Congenital↗
PubMed1980

Substrate affinity in PGM1, PGM2, and PGM2 isozymes.

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.

Electrophoresis, Agar Gel↗
PubMed1979

Polymorphism of alanine aminotransferase (E.C.2.7.6.1): common and rare alleles.

Gene frequencies of common and rare GPT alleles derived from an investigation of 1139 unrelated, healthy individuals from southwestern Germany are given. GPT typing was performed by means of horizontal starch gel electrophoresis in a Tris-histidine x HCl buffer system. In addition, a new electrophoretic variant, GPT9, is described. The frequencies of the GPT alleles observed were calculated as: GPT1, 0.4987; GPT2, 0.4686; GPT1M, 0.022; GPT0, 0.005; GPT3, 0.0022; GPT4, 0.0025; GPT8, 0.0005; GPT9, 0.0005.

Alanine Transaminase↗
PubMed1979

Human mitochondrial glutamic-oxaloacetic-transaminase, GOTM: formal genetics.

The polymorphism of human GOTM was investigated in red blood cells by means of routine starch gel electrophoresis. The formal model of two common alleles, GOTM1 and GOTM2, at an autosomal locus GOTM was confirmed by examination of 640 mother-child pairs. The frequency of GOTM1 in this sample from southwestern Germany was calculated to be 0.981 +/- 0.003.

Alleles↗
PubMed1979

Human pancreatic amylase polymorphism: formal genetics and population genetics.

The genetically determined polymorphism of human pancreatic amylase (E.C. 3.2.1.1), AMY2, is demonstrated in serum specimens by agarose gel electrophoresis. We investigated 325 mother-child pairs and 2594 unrelated individuals from southwestern Germany. This study confirms the formal hypothesis of two common alleles AMY1/2, AMY2/2 and possibly two rare alleles AMY3/2, AMY4/2 at an autosomal locus AMY2. The frequency of the AMY1/2 allele was calculated as 0.951; AMY3/2 and AMY4/2 seem to have a frequency of 0.001 in this sample.

Alleles↗
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↗