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Biomedical subjects

K Bender

Publications and source records attributed to K Bender.

At least 109 records · Page 6Linked to original sources
PubMed1978

Screening of inbred rat strains for electrophoretic protein polymorphisms.

Nineteen inbred strains of the laboratory rat (Rattus norvegicus) were investigated for genetic differences by starch and agarose gel electrophoretic techniques. For six out of 21 loci, interstrain differences were observed: Tf, 6PGD, Es-1, Es-4, Es-5, and Svp. The variants are briefly described and the allelic distributions are tabulated. The 6GPD locus was found to be linked neither to the major histocompatibility gene region nor to the coat color genes c, a, h.

Animals↗
PubMed1978

Genetic polymorphism of the fourth component of human complement.

A modified electrophoretic system for the determination of C4 polymorphism has been found with which the new allotype F1 could be detected. The system has been applied to the population distribution of C4 in 266 unrelated Germans, further to association and linkage studies. Gene frequency was 0.3985 for C4F, 0.5526 for C4S and 0.0489 for the rare C4 genes. In the population sample, significant association between Bf and C4 but no indication for close association between C4 and GLO I has been found. In the families HLA, Bf and C4 segregated together.

Complement C4↗
PubMed1977

Glyoxalase I polymorphism in South African Bantu-speaking negroids.

The newly described genetic polymorphism of glyoxalase I (GLO) is studied in seven ethnically defined Negroid samples from South Africa (total: n = 843). The allele frequencies between the different Negroid samples studied vary only marginally. However, the allele frequency of GLO1 for the South African Negroid samples combined (i.e., p = 0.259), is highly significantly lower than that for Caucasoid samples.

Alleles↗
PubMed1977

No evidence for linkage disequilibrium between Bf and GLO in African negroids.

A sample of South African Negroids (n = 791) was scored for each individual's Bf and GLO phenotype. (The genes for the Bf and GLO olymorphisms are included in a known cluster of linked genes on chromosome 6.) Following a x2-test the respective two series of alleles were found to be disturbed at random, i.e., there was no evidence for a linkage disequilibrium. This result is discussed in terms of the linkage relationships and map distances of the genetic markers involved.

Alleles↗
PubMed1977

Haplotype analysis of the linkage group HLA-A:HAL-B:Bf and its bearing on the interpretation of the linkage disequilibrium.

The analysis of 650 HLA-A:HAL-B:Bf three-factor haplotypes revealed significant associations only between alleles of the very closely linked genes HLA-A and HLA-B, and Bf, respectively. Most striking is the highly significnat association of the rare Bf variant F1 with HLA-B18 and of S1 with HLA-B13, HLA-B14, and HLA-Bw21. Only random allele distributions were observed when considering the somewhat more distant genes HLA-A and Bf or the higher order interaction at all three genes. From these findings it seems likely that the linkage disequilibrium within the MHC is not due to selective forces, but rather due to a short evolutionary period.

Chromosomes, Human, 6-12 and X↗
PubMed1977

Tentative evidence for 3--4 haematopoetic stem cells in man.

Blood specimens from a random sample of 981 South African Negroid females were typed electrophoretically inter alia for their G-6-PD phenotypes, The allele frequency for GdB and GdnonB was found to be 0.8126 and 0.1874 respectively. Calculating the number of individuals expected for each phenotypic class, a highly significant deviation from the Hardy-Weinberg equilibrium became manifest, i.e. there was a deficit of 24.6% of heterozygotes and an excess of 12.3% of each of the two classes of homozygotes. Several possible reasons for this discrepancy e.g. the effects of pooling sub-samples, selection and misclassifications due to insufficient staining were examined and were found not be likely explanations for the observed phenomenon. Instead, the result is interpreted as due to only 3--4 stem cells which give rise to the haematopoetic system in man.

Cell Differentiation↗
PubMed1977

Occurrence of Su in a German family.

Investigating a paternity case we observed a pretended opposite homozygosity of the S and s alleles between a mother and her child. The presence of the rare allele Su in this family could be demonstrated with the aid of dosage studies and blood group testing of the mother's parents. 22 additional genetic marker systems, including the HLA-system were examined, a biostatistical calculation was performed as well. The results obtained from these testings were in accordance with the hereditary rules and the posssibility of ilegitimacy or of children's substitution could be excluded. Only Caucasoid ancestry was known to the family. In addition, family members showed another rare blood group marker, the allele GPT0.

Alleles↗
PubMed1977

Inheritance of cis-AB in three generations (family Lam.).

In a case of disputed paternity genetic incompatibility was observed in the ABO blood group system between mother (O) and child (AB). From biostatistical evaluation of 21 genetic markers, including HLA phenotypes, a high value of probability for paternity, maternity and parentage was found between the child, the child's mother, the accused man and his mother. Substitution of the newborn was thereby excluded. The serostatistical evaluation of maternity and paternity could be supported by anthropological opinion. In serological investigations of the ABH system the A and B antigens of the 'A2B' cells were found to be abnormal in the child, the child's father, and the father's mother: the A was weaker than normal A1 but stronger than normal A2; the B was found to be abnormal which in addition was documented through occurrence of irregular anti-B antibodies in the child. In comparison to normal controls (A1, A2, B, A1B, A2B) diminished activity of alpha-D-N-acetylgalactosamine and alpha-D-galactosyltransferase were observed in the three 'A2B' propositi. These facts confirmed the existence of a cis-AB gene in the Lam. family which the child inherited from her father and the child's father from his mother. Assuming a population frequency of 1.1 X 10(-5) for the cis-AB gene, the probability for paternity was calculated from all genetic markers to be W = 99.9999985%.

ABO Blood-Group System↗
PubMed1977

Evidence for preferential X-chromosome inactivation in a family with Fabry disease.

Severe clinical signs of Fabry disease were observed in four of eight heterozygous daughters of a male patient. Activities of alpha-galactosidase A in serum, white blood cells, and hair roots of the manifesting carriers were markedly lower than 50% of normal. These findings are not easy to interpret in terms of random X inactivation alone; several alternative models including nonrandom (preferential) X inactivation are discussed.

Blood Group Antigens↗
PubMed1976

No indication of postnatal selection at the HL-A loci.

When the HL--A allele frequency and the distribution of 2, 3 and 4 different antigens, respectively, in children and old people were compared no differences could be observed between the two groups. The data thus disprove a simple model by which HL--A heterozygosity should enhance surveillance.

Age Factors↗
PubMed1975

Esterase. XXI. Es-9, a possibly new polymorphic esterase in Mus musculus genetically linked to es-2.

A so far undescribed gene controlling zone III esterases has been detected by means of disc gel electrophoresis of kidney homogenates from the two inbred mice strains NMRI and SK/Cam. The gene is tentatively designated Es-9, and the two codominant alleles are designated Es-9a and Es-9b. Es-9 esterases are present in many tissues, but, unlike the other zone III esterase (controlled by Es-5), are not found in the serum. Close linkage with the Es-2 gene leads us to map the Es-9 gene on chromosome 8.

Alleles↗
PubMed1975

[Ovarian cancer in a monocygotic twin pair (Author's transl)].

We report on a female monocygotic twin pair, where the two women fell ill of an adenocarcinoma of the ovaries almost simultaneously. The paramesonephric epithelium of the coelom is discussed as origin for the disease. The concordance of the disease in the same environment points to the genetic factors is being more important in the development of the disease. Nevertheless a clearcut hereditary troit can not be defined at this time.

Adenocarcinoma↗