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Biomedical subjects

L R Weitkamp

Publications and source records attributed to L R Weitkamp.

17 recordsLinked to original sources
PubMed1979

Equine peptidases: correspondence with human peptidases and polymorphism for erythrocyte peptidase A.

Equine erythrocyte peptidases were compared to the six human erythrocyte peptidases, A, B, C, D, E, and F, regarding substrate specificity, relative activity, and electrophoretic mobility. Five equine erythrocyte peptidases appeared homologous to human peptidases A, B, D, E, and F. In contrast to human, equine peptidase C was absent in red cells, although it was weakly active in white cells. On the other hand, an equine peptidase, probably homologous to human peptidase S, was weakly active in red cells as well as present in white cells. Polymorphism for equine erythrocyte peptidase A is reported.

Animals↗
PubMed1978

Concerning the linkage relationships of the Gc and MNSs loci.

Lod scores for the linkage relationships of the Gc and MNSs loci are presented for data from a number of published pedigrees and 103 new families. Linkage may be excluded at a recombination frequency of less than 25% in males and 30% in females.

Alpha-Globulins↗
PubMed1978

Equine markers genes. Polymorphism for group-specific component (Gc).

Polymorphism of equine Gc protein was demonstrated by immunofixation electrophoresis with a goat anti-human Gc antibody. Three different phenotypes, F, FS and S, were found. Family data supported the genetic theory of two autosomal codominant alleles, GcF and GcS. Both alleles occurred in Standardbred, Thoroughbred and Arabian horses and in Shetland ponies. A frequency of 0.23 for GcS in the American Standardbred horse indicates the system should be useful for problems of identification and parentage.

Alleles↗
PubMed1978

On the mapping of PGM3, GLO and HLA.

In a combined Danish, American and Icelandic study, the odds for the orientation PGM3 :GLO:HLA-B:HLA-A versus GLO:HLA-B:HLA-A:PGM3 are estimated to be 75:1. The GLO:HLA recombination frequency is estimated at 5% for males and 12% for females. The recombination fraction for PGM3:GLO is 12--13% in males and is significantly higher in females (approximately free recombination). The findings are consistent with the large sex differences in recombination frequency between HLA and PGM3.

Epitopes↗
PubMed1978

The linkage relationships of marker sites on chromosomes no. 2 and 10.

Two families in which aberrations involving chromosome no. 2 had been previously used for linkage studies have been re-examined using banding techniques to identify the breakage sites. In one family a (2; 10)(q21;q24) translocation was identified in individuals previously thought to have a pericentric inversion of chromosome no. 2. In the other, a fragile secondary constriction site was localized to 2q13, and it was shown by bromodeoxy uridine incorporation that the origin of the triradial chromosome no. 2 was by isochromatid breakage and non-disjunction rather than by selective endoreduplication. The three marker sites, 2q13, 2q21 and 10q24, have been analysed for their linkage relationships with 15 informative marker loci which have not yet been assigned to chromosomes other than no. 2 or no. 10. No significant evidence for linkage with any of the loci tested was found.

Chromosome Banding↗
PubMed1978

Linkage relations of a locus for congenital total nuclear cataract.

A family with an autosomal dominant form of congenital cataract, total nuclear cataract, was examined for genetic linkage between the cataract locus and 30 marker loci. Close linkage was excluded for all of the 21 informative loci. There was no significant evidence for linkage of the cataract locus with any of the marker loci.

Amylases↗
PubMed1977

The linkage relationships of the beta and delta hemoglobin genes.

Three new families providing information on the linkage relationships between the delta and beta hemoglobin loci are reported. One of the families contains the first reported individuals having Hb S and Hb B2 in coupling. Analysis of the information found in the literture is compatible with a recombination frequency of 3 percent between beta thalassemia and the delta structural locus. This highly improbable frequency might be explained by either diagnostic errors or paternity problems in the pedigrees containing recombinants or by the conceivable possibility that certain thalassemia genes increase the probability for recombination in the chromosomal region containing the non alpha globin genes.

Black People↗
PubMed1977

Hereditary C5 deficiency in man: genetic linkage studies.

Genetic linkage studies were performed on the only reported kindred with genetic deficiency of the fifth component of complement (C5). Thirty family members in four generations were studied for C5 defiency and 32 genetic marker systems. Of these marker loci, 13 were informative in this pedigree. Most importantly, C5 deficiency was excluded (lod score greater than -2.0) from linkage with the major histocompatibility locus (HLA) from a recombination frequency of greater than 15% (in females). Other marker systems excluded from linkage with C5 deficiency included the ceruloplasmin and Duffy loci at a recombination frequency of less than 15%, and the erythrocyte glyoxalase, MN, and Lewis loci at a recombination frequency of less than 5%. The most positive lod score (1.07, theta=0.05) was for linkage between C5 and haptoglobin, but this score does not reach statistical significance. Thus, among the genes for complement components which can be mapped because of deficiency states or polymorphic gene products, C5 joins C1r, C3 and C6 in not being closely linked to HLA. In contrast, close HLA linkage has been demonstrated for C2, C4, properdin factor B and, in one of two families, C8.

Adolescent↗
PubMed1976

Linkage of GLO with HLA and Bf. Effect of population and sex on recombination frequency.

Further data on the linkage relationships of red cell glyoxalase I(GLO) with HLA and Bf are reported. The most likely order of loci is GLO: Bf: HLA-B: HLA-A. No sex difference in the frequency of recombination between GLO and HLA was noted, but recombination was more frequent for both males and females in the American black population than in the white population.

Adult↗