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K Bender

Publications and source records attributed to K Bender.

At least 91 records · Page 5Linked to original sources
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

Linkage relationships between Retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome.

A cloned DNA sequence, RC8, from the short arm of the X chromosome which is linked to the Duchenne muscular dystrophy (DMD) gene has been employed to study linkage relationships with the Xg-linked retinoschisis (RS) locus. Results of three point linkage analyses in two families suggest that the gene order on Xp is Xg-RS-RC8. Moreover, it can be inferred from these date that the genetic distance between Xg and DMD is approximately 55 cM.

Alleles↗
PubMed1983

The C4 beta-chain: evidence for a genetically determined polymorphism.

Using sodium dodecyl sulphate polyacrylamide gel electrophoresis (SDS-PAGE) five different beta-chain patterns of denaturated human C4 were observed: C4 beta H, beta H greater than L, beta H = L, beta H less than L, and beta L. In 32 families with 174 offspring the segregation of C4 beta-chain types followed that of the other major histocompatibility complex (MHC) markers. It is concluded that the C4 beta-chain patterns represent a genetically determined polymorphism, coded within the known C4A and B gene region.

Complement C4↗
PubMed1983

C6 linkage studies.

Explore the source record for details and available documents.

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↗
PubMed1982

Es-6, a further polymorphic esterase in the rat.

A further polymorphic rat esterase with broad tissue expression and restricted substrate specificity is described and tentatively called Es-6. Inbred rat strains have either fixed allele Es-6F or fixed allele Es-6S. Es-6 is not linked to the established esterase cluster consisting of the eight esterase loci Es-1, Es-2, Es-3M, Es-4M, Es-4W, Es-5 (= Es-3W), Es-7, and Es-8 in LG V of the rat or to RT1, Gc, c, a, and h. Esterases with apparently identical biochemical and genetical characteristics are Es-17 of the mouse and Es-A4 of humans.

Alleles↗
PubMed1981

Age-dependency of somatic selection in South African Negro G-6-PD heterozygotes.

The distribution of red cell G-6-PD phenotypes was analysed in terms of their manifestation in South African Negro females of different age classes. It was found that with increasing chronological age, over the age range from the teens to adulthood, the relative proportion of females expressing a "non BB" phenotype gradually decreases and the relative proportion of females expressing a "B" phenotype increases concomitantly. It is suggested that this phenomenon is attributable to age-dependent somatic selection against the deficient A- cell line in appropriate heterozygotes. This process can give rise to the misinterpretation of recording a growing excess of "homozygotes" and a corresponding increasing deficit of "heterozygotes" with ongoing chronological ageing. It is speculated that the postulated process of age-dependent somatic selection may be in response to malaria as the underlying selective agent. Considerations in this respect are discussed in greater detail.

Adolescent↗
PubMed1981

A previously described serum protein polymorphism in the rat identified as Gc ('vitamin D-binding protein').

The previously published serum protein polymorphisms G1-1 (Moutier, Toyama & Charrier, 1973) and 'tf' (Bender & Günther, 1978) are identical and represent genetic variation at the locus of the vitamin D-binding a-globulin, also known a Gc or group-specific component. The identity was established by comparative protein staining, by functional tests with 14C-vitamin D3, by immunological studies with specific anti-Gc sera and by the strain distribution patterns. The Gc polymorphism in the rat may initiate interesting physiological and genetical studies.

Animals↗
PubMed1981

South African Negroes: isoenzyme polymorphisms (GPT, PGM1, PGM2, AcP, AK, and ADA) and tentative genetic distances.

Data on the genetic polymorphisms of the isoenzyme markers GPT, PGM1, PGM2, AcP, AK and ADA are presented for 7 ethnically defined Negro sub-samples (total n = 847-973, depending on the genetic marker concerned) from South Africa. The results are discussed in terms of previous findings, of the anthropogenetic interrelatedness of the populations concerned and of the factors assumed to have an influence on the distribution of the particular genetic markers. The entire data is subjected to the computation of "genetic distances" using several of the formulae available for this purpose. Some tentative conclusions on these results as well as on the formulae applied are drawn.

Alleles↗
PubMed1980

Erythrocyte G-6-PD and 6-PGD genetic polymorphisms in South African Negroes, with a note on G-6-PD and the malaria hypothesis.

Sample of 981 and 998 South African Negroes belonging to seven different ethnic groups were screened for G-6-PD and 6-PGD phenotypes, respectively. The results are discussed in terms of the interethnic variability and the possible adaptive values of these genetic polymorphisms. Particular attention is paid to the geographic co-distribution and interrelationship of G-6-PD deficiency and the occurrence of malaria in South Africa.

Black People↗
PubMed1979

Linkage studies on the human Pi, Gm, GLO, and HLA genes.

Linkage data of the four gene markers Pi, Gm, GLO, and HLA exclude Gm and Pi gene assignment to the short arm of chromosome 6. The findings, however, do not disprove the following gene order: HLA--GLO--centromere--Gm--Pi.

Adult↗
PubMed1978

Analysis of the HLA-ABC linkage disequilibrium: decreasing strength of gametic association with increasing map distance.

1242 HLA-ABC haplotypes of the North German population (Hambrug) as deduced by family analyses are described. They are in perfect agreement with recently published data by Mayr (1977) from Austria (Vienna) in all parameters tested: frequency of the single HLA-alleles, haplotype distribution and linkage disequilibrium values. Gametic association studies revealed that 69.4% of the B and C genes (map distance 0.2cM) 36.9% of the A and C genes (0.6 cM), but only 23.2% of the A and B genes (0.8 cM) were significantly more often combined than expected due to their frequencies. From these findings it seems likely that the linkage disequilibrium within the MHC is rather due to a short evolutionary period than to selective forces. Some observations as to the most common European haplotype A1,B8 are discussed.

Alleles↗