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P Teisberg

Publications and source records attributed to P Teisberg.

At least 37 records · Page 2Linked to original sources
PubMed1986

Studies of HLA, factor B (Bf), complement C2 and C4 haplotypes in type 1 diabetic and control families from northern Sweden.

The HLA-A,-B,-C,-DR antigens and the complement factors C2, C4 and Bf were determined in 30 insulin-dependent diabetes mellitus (IDDM) patients and 30 healthy controls from northern Sweden. Family studies allowed the deduction of extended haplotypes in the HLA and complement systems. Phenotype studies revealed significant associations between IDDM and HLA-DR4 (p less than 0.001), HLA-DR3 (p less than 0.05), HLA-DR3/4 (p less than 0.025), C4-B3 (p less than 0.001) and Bf-S (p less than 0.025). Haplotype studies showed that the extended haplotype [HLA-B15, C2-1, C4-A3B3, Bf-S, HLA-DR4] had a particularly strong association to IDDM. This haplotype was found in 10 out of 30 IDDM probands but in none of 30 control children and accounts for practically all the C4-B3 allotypes among the 30 IDDM probands. The C4-B3 gene therefore seems to be a valuable marker for IDDM. No haplotype containing HLA-DR3 was increased in frequency among the IDDM probands. The extended haplotype [HLA-B7, C2-1, C4-A3B1, Bf-S, HLA-DR2] present among the controls was absent in the IDDM probands. The frequency of the extended haplotype [HLA-B15, C2-1, C4-A3B3, Bf-S, HLA-DR4] was increased also among the parents to the IDDM probands compared to those of the control parents, whereas the frequency of [HLA-B7, C2-1, C4-A3B1, Bf-S, HLA-DR2] was decreased. The extended haplotype [HLA-B8, C2-1, C4-B1, Bf-S, HLA-DR3] was more common among the males (p less than 0.05) compared to the females in the total material. The family analysis showed that 3 out of 5 affected sibs shared both haplotypes with their IDDM proband. This was the case for only 3 out of 35 unaffected sibs.

Adolescent↗
PubMed1986

HLA genotypes in a family with a case of homozygous C2 deficiency and discoid lupus erythematosus.

A fifty-year-old man with a history of recurrent bronchial and renal infections, and rheumatoid arthritis was admitted with a sunexposure-induced discoid lupus erythematosus. Complement levels and HLA typing of the patient and his family revealed a homozygous C2 deficiency in the patient and his HLA-identical healthy younger sister. The C2 deficiency gene was associated with HLA-A10, B18, DR2, C4A4B2, BfS on one chromosome and with HLA-A2, B7, DR2, C4A4B2, BfS on the other.

Arthritis, Rheumatoid↗
PubMed1986

Identification of homozygosity for a human apolipoprotein A-I variant.

An apolipoprotein (apo) A-I variant, previously described in two Norwegian families (Schamaun et al. 1983. Hum. Genet. 64: 380-383), represents a mutation in apoA-I in which a single amino acid substitution of lysine for glutamic acid has taken place at residue 136. An offspring resulting from intermarriage between the two families is genotypically homozygous for this variant. He is the first individual discovered to be homozygous for any of the apoA-I variants. Analysis of lipid data collected from these families indicates one or more lipid abnormalities. The low density lipoproteins (LDL) of subjects having this apoA-I variant demonstrate a compositional abnormality. The plasma cholesterol concentration in the homozygous subject is low because of the extremely reduced levels of LDL and apoB, a property shared by some of his first-degree relatives. However, because of the presence of apoE2 in this family, it is not possible to definitively link these lipid abnormalities to the presence of the A-I variant.

Adolescent↗
PubMed1985

Genetic polymorphism of complement component C8.

Extensive genetic polymorphism of complement component C8 was demonstrated by isoelectric focusing of serum or plasma samples followed by immunoblotting procedures. Using these methods, we could detect both alpha-gamma (C81) and beta (C82) chain polymorphisms in the same gel. Two-dimensional (2D) electrophoresis of C8 immunoprecipitates was used to obtain further information of the C8 patterns. Evidence was obtained that the C81 polymorphism resides in the structural gene of the C8 alpha chain. Both C8 systems show autosomal, chiefly codominant inheritance, and the distribution of phenotypes agrees with the Hardy-Weinberg equilibrium. Our findings suggest at least five different alleles in the C81 system; the gene frequencies of the two most common ones, C81*A and C81*B being 0.59 and 0.39, respectively. In C82 we found evidence for at least three codominant alleles, the gene frequencies for the two most common ones, C82*B and C82*A being 0.94 and 0.05, respectively. In addition, family studies disclosed the existence of a null allele, C82*Q0.

Alleles↗
PubMed1985

Effect of exercise training in patients with essential hypertension.

The aim of the present study was to examine the effect of regular exercise training in moderate essential hypertension. Twenty subjects (one woman and 19 men) trained for 45 minutes three times a week for 12 weeks, to 60% of their maximal heart rate. Blood pressure was measured at rest and during a maximal exercise test on bicycle ergometer. All subjects achieved training effect measured as a significant reduction in heart rate at comparable submaximal work level and a significant increase in duration of exercise. Diastolic blood pressure at rest decreased from 107 +/- 7 to 101 +/- 5 mmHg (P < 0.01), and at corresponding submaximal exercise level 116 +/- 11 to 106 +/- 11 mmHg (P < 0.01). No significant reduction in systolic blood pressure was found. Exercise training might in some patients with moderate essential hypertension be an alternative to pharmacological treatment.

Adult↗
PubMed1985

A structural locus for coagulation factor XIIIA (F13A) is located distal to the HLA region on chromosome 6p in man.

Linkage between the locus for coagulation factor XIIIA (F13A) and HLA-region genes has been revealed during a linkage study between F13A and approximately 40 other polymorphic marker genes. In males, the maximum lod score between F13A and HLA-region genes (HLA-A, -C, -B, -DR; C4A, -B; Bf; and/or C2) is 7.60 at theta 1 = .18. To GLO, the maximum lod score is 2.37 at theta 1 = .19; to PGM3, .22 at theta 1 = .35. Female data indicate a clear sex difference in recombination frequency between F13A and HLA. The present findings, in combination with earlier knowledge of PGM3/GLO/HLA localization and gene distances, show that F13A is distal to HLA on the short arm of chromosome 6 in man. It is thus likely that by including FXIIIA typing in linkage studies, the whole male 6p is within mapping distance of highly polymorphic, classical marker genes. Earlier findings that the Hageman factor gene (F12) is located in the same chromosomal region may indicate the presence of a coagulation factor gene cluster in this region.

Chromosome Banding↗
PubMed1984

The locus for apolipoprotein E (apoE) is close to the Lutheran (Lu) blood group locus on chromosome 19.

Linkage has been described between the loci for apolipoprotein E (apoE) and the complement C3 (C3) on chromosome 19. C3 is known to belong to a linkage group with gene order C3-Se-Lu. The present study revealed linkage between Se and apoE with peak lod score +3.3 at recombination fraction 0.08 in males and +1.36 at 0.22 in females, and linkage between apoE and Lu with lod score +4.52 at zero recombination in sexes combined. The C3-apoE linkage gives lod score +4.00 at theta = 0.18 in males, but +0.04 at theta = 0.45 in females. Triple heterozygote families confirm that apoE is on the Se side and on the Lu side of C3. Allelic association between apoE and Lu has not been ruled out. Combining our data with published data on C3-Se and Se-Lu, this segment of chromosome 19 has an average age sex ratio of female/male recombination of 2.3.

Alleles↗
PubMed1984

The two apolipoprotein loci apo A-I and apo A-IV are closely linked in man.

In man the closely linked genes for the apolipoproteins A-I and C-III have been assigned to chromosome 11. Linkage studies performed in a Norwegian family with a mutant apoA-I gene established a close linkage between the loci for apoA-I and apoA-IV. For both sexes combined, the peak lod score was 3.01 at a recombination fraction of 0 = 0.00. Thus this study adds the locus of apoA-IV to the previously reported apolipoprotein gene cluster on chromosome 11. The previously unidentified polymorphic serum protein, USP1, is by immunochemical and electrophoretical methods identified as apoA-IV. ApoA-IV typing should be a valuable tool in elucidating the genomic organization of chromosome 11.

Apolipoproteins A↗
PubMed1984

HLA-B27 and allotypes of complement components in ankylosing spondylitis.

Thirteen families were studied for the frequency of HLA-B27 and allotypes of the components of complement, C2, C4 and Bf. The 13 probands all suffered from definite ankylosing spondylitis (AS) as defined by the New York criteria. The results showed that HLA-B27 positive haplotypes in AS patients possessed different complement allotypes. Thus, it is postulated that the gene conferring predisposition to the development of AS is either HLA-B27 itself or another gene in very close proximity to the HLA-B locus.

Alleles↗
PubMed1983

Genetic studies of an apoA-I lipoprotein variant.

ApoA-I is the major apolipoprotein component of human high density lipoproteins (HDL). By a 2-D electrophoretic study of serum samples from Norwegian families, an apoA-I variant (apoA-I 2-1) was detected in a healthy individual. In the present study performed to elucidate formal and population genetic aspects of apoA-I, this variant was observed in 4 generations of the family of the propositus. One homozygous individual was found. A codominant autosomal Mendelian inheritance was established for the variant. Two heterozygotes were found among 124 unrelated individuals tested. The apoA-I 2 allele frequency was calculated as 0.008 in this population sample.

Apolipoprotein A-I↗
PubMed1983

The in vivo metabolism of C3 in human glomerulonephritis and after renal transplantation.

Metabolic investigations of complement component C3 have been performed to study pathogenetic mechanisms in patients with glomerulonephritis and after renal transplantation. Purified and biologically active 125I-labelled C3 was given intravenously together with 131I-albumin to nine patients with different forms of glomerulonephritis and nine allograft recipients at different stages after renal transplantation. Control studies were performed in 16 normal individuals. The fractional catabolic rate (FCR) of the proteins was calculated with the metabolic clearance method (U/P ratio) and/or by analysis of the plasma radioactivity disappearance curve. An increased FCR of C3 was found in three patients with glomerulonephritis. A modestly elevated FCR of C3 was found in all but one of the transplant patients as calculated by the U/P ratio, while the FCR was high in only two when calculated from plasma radioactivity disappearance. Slight increases of C3 catabolism were found during two suspected rejection episodes, but may have been due to a general increase in protein turnover. The serum level of C3 was reduced in two recipients and in one of these the FCR of the protein was elevated. The remaining patients had normal or increased C3 levels. Judged from these results, activation of complement was only of modest importance in the patients studied.

Adolescent↗
PubMed1983

Gene order and gene distances in the HLA region studied by the haplotype method.

The present report describes a method to establish gene order and gene distances in chromosomal regions where several genes are located closely together. The method is applied to the study of the complement loci in the HLA complex on chromosome 6 in man. The method is based on allelic association, i.e. alleles of closely linked loci are nonrandomly associated on haplotypes. A haplotype which yields information has a frequency higher than would be expected from the frequencies of each of its alleles. They occur, moreover, with a frequency which makes them the main source of the least frequent of the alleles in the combinations. Other haplotype combinations involving this allele (these alleles) are most likely the results of recombinational events involving a main haplotype. Such crossovers may therefore, on certain conditions, be used for gene mapping purposes. Some basic rules for the use of the method are given. A total of 701 haplotypes involving the short arm of chromosome 6 have been studied. Typings have been performed with regard to HLA-A, -B, -C, -D/-DR, C4, C2 and Bf. The study confirms previous localization of the complement loci between HLA-D and -B. The investigation suggests the order HLA-D-Bf-C4-C2-HLA-B. There is, moreover, slight evidence in favour of a localization of the C4A gene on the HLA-B side of C4B. Given an HLA-A-HLA-B distance of 0.8 cM, suggested relative distances are: HLA-D-Bf:0.44 cM, Bf-C4:0.04 cM, C4-C2:0.11 cM, and C2-HLA-B:0.12 cM.

Alleles↗
PubMed1982

Fibrinogen gamma chain locus is on chromosome 4 in man.

A molecular fibrinogen variant has been detected by two-dimensional electrophoresis of human plasma samples. Fibrinogen is a complex molecule consisting of three different polypeptide chains A alpha, B beta, and gamma. The presently described variation resides in the gamma-chain, which in the variant is slightly more basic and heavier than the common form of this chain. In a family material it has been shown that the variant is genetically determined, and the segregation pattern shows autosomal codominant inheritance. The family material has been typed in approximately 30 marker systems, and linkage studies have shown close linkage between the gamma-chain locus (FGG) and MNSs. The MNSs loci are known to be located on chromosome 4 in humans and the fibrinogen gamma-chain locus is thus on this chromosome. The MNSs/FGG distance is approximately 8 centimorgans. Supplementing data suggest that FGG is distal to MNSs on the long arm of chromosome 4.

Chromosome Mapping↗
PubMed1982

The locus for apolipoprotein E (apoE) is linked to the complement component C3 (C3) locus on chromosome 19 in man.

By two-dimensional electrophoresis of human serum a genetically determined polymorphism of apolipoprotein E (apoE) can be demonstrated. Three alleles occur with appreciable frequency in Caucasian populations. In the present study the segregation of apoE and complement component C3 (C3) types in material from Norwegian families has been studied. Linkage has convincingly been demonstrated between the two loci with a lod score of 3.00 in males at a recombination fraction of 13%. As it is known that the C3 locus is situated on chromosome 19 in man, apoE can be located to this specific chromosome. Positive linkage data do not, to our knowledge, at present exist with regard to other apolipoproteins.

Adult↗
PubMed1982

The in-vivo metabolism of C3 in ankylosing spondylitis.

Turnover studies with radioactively labelled C3 were performed in 7 patients with ankylosing spondylitis and in 14 healthy individuals . As a group the patients had a moderately higher fractional catabolic rate of C3 than the controls. A possible explanation is that the complement system is activated by immune complexes. The serum levels of C3 were high. The hypercatabolism was therefore more than compensated for by an increased synthesis rate.

Adult↗
PubMed1982

The in vivo metabolism of C3 in hepatobiliary disease associated with ulcerative colitis.

To study possible pathogenetic mechanisms in hepatobiliary disease associated with ulcerative colitis (UC), we performed a metabolic investigation of component C3 of the most important effector of humoral immunity, the complement system. Purified and biologically active C3 was labelled with 125I and injected together with 131I-albumin into seven patients. All had hepatobiliary disease, and total colectomy had previously been performed for severe UC in all patients. The results were compared with those for 16 normal individuals. The fractional catabolic rates (FCR) were calculated by the metabolic clearance method and by analysis of the plasma radioactivity disappearance curve. An increase in the FCR of C3 was found in the patient group, indicating that humoral immune mechanisms may be of pathogenetic importance in hepatobiliary disease associated with UC. The increased FCR was compensated for by and increased synthesis rate of the protein.

Adult↗
PubMed1981

Complement loci of the HLA complex. Studies on families with intra-HLA crossovers and haplotype associations.

We report genetic studies of families with defined crossovers in the HLA complex. Haplotypic associations between the different alleles have been analyzed. The object of the studies has been to determine the precise location of complement loci on the HLA complex on chromosome 6. Based on direct observation of recombinations and on indirect evidence from haplotypes, we postulate that the C4 and Bf loci are located between the HLA-B and -D regions and probably closer to the former. Available information also points towards the same localization for the C2 locus.

Alleles↗