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H Eiberg

Publications and source records attributed to H Eiberg.

At least 109 records · Page 6Linked to original sources
PubMed1985

Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker.

A polymorphic DNA marker has been found genetically linked, in a set of 39 human families, to an autosomal recessive gene that causes cystic fibrosis (CF), a disease affecting one in 2000 Caucasian children. The DNA marker (called D0CRI-917) is also linked to the PON locus, which by independent evidence is linked to the CF locus. The best estimates of the genetic distances are 5 centimorgans between the DNA marker and PON and 15 centimorgans between the DNA marker and the CF locus, meaning that the location of the disease gene has been narrowed to about 1 percent of the human genome (about 30 million base pairs). Although the data are consistent with the interpretation that a single locus causes cystic fibrosis, the possibility of genetic heterogeneity remains. The discovery of a linked DNA polymorphism is the first step in molecular analysis of the CF gene and its causative role in the disease.

Aryldialkylphosphatase↗
PubMed1985

Linkage relationships of paraoxonase (PON) with other markers: indication of PON-cystic fibrosis synteny.

The linkage relationships of the serum arylesterase paraoxonase (PON) was examined in our Danish material of normal families and in Danish and English cystic fibrosis families. Highest lod scores were found between PON and cystic fibrosis. The combined lod score for this relationship was z = 2.69 at theta = 0.07 in males and theta = 0.00 in females. When scored in accordance with a tentative three allele model for PON, the score was z = 3.70 at the same theta values. Linkage studies for PON against 64 other polymorphic marker systems did not give any lod score above +1.3 and PON still remains chromosomally unassigned. By the present screening about 2/3 of the genome could tentatively be excluded as the region of PON and cystic fibrosis.

Aryldialkylphosphatase↗
PubMed1984

Linkage of plasma alpha-L-fucosidase (FUCA2) and the plasminogen (PLG) system.

Plasma fucosidase (FUCA2) was examined by means of a technique using p-nitrophenyl-alpha-L-fucopyranoside as substrate. The material consisted of normal Danish families, including 1,672 unrelated persons (parents). In this material the low activity allele frequency was found to be plow = 0.286 which agrees with earlier studies in European populations. The allele frequencies did not differ significantly between the sexes. Segregation ratios agreed with the hypothesis that 'low' is due to an autosomal recessive allele. Our results give a strong indication of linkage for FUCA2-PLG (z = 7.37 theta = 0.12) in males, and the linkage may be considered as formally demonstrated. The PLG-system as judged from our indication of linkage with GC (z = 2.35, theta = 0.30 in males) is then possibly located on chromosome 4p (Eiberg et al. 1981).

Adult↗
PubMed1984

Confirmation of F13A assignment and sequence information concerning F13A-HLA-GLO.

The polymorphism of the blood clotting factor F13A was examined in some of our Danish material of normal families. A total of four alleles were recognized, with allele frequencies as follows: F13A *1 = 0.817, F13A *2 = 0.177, F13A *4 = 0.003 and a new allele F13A *5 = 0.003. The distribution of unrelated individuals did not deviate significantly from the Hardy-Weinberg expectation. Linkage of F13A with HLA was confirmed (z = 5.18, theta = 0.17 in males and z = 0.14, theta = 0.37 in females). The sequence of the three systems F13A, HLA and GLO was found to be F13A-HLA-GLO as judged from two families each with a recombinant within the HLA system in males.

Factor XIII↗
PubMed1983

delta-Aminolevulinatedehydrase: synteny with ABO-AK1-ORM (and assignment to chromosome 9).

A material comprising 846 normal families from the Copenhagen area (fam. no. 604-1505) was tested for delta-aminolevulinatedehydrogenase. Among the 1697 unrelated individuals (parents), the gene frequencies were 0.9378 for ALADH 1 and 0.0622 for ALADH 2. The distribution of phenotypes and the segregation ratios did not deviate significantly from the expected values. Linkage analysis was carried out for markers on chromosome 9, following up a hint of ALADH-ORM linkage in part of the material. This was confirmed, and the most likely sequence, as judged from male theta values, was found to be ABO-AK1-ALADH-ORM. The theta and z values were as follows: ABO-AK1 (theta = 0.13, z = 6.27), ABO-ALADH (theta = 0.21, z = 5.38), ABO-ORM (theta = 0.27, z = 5.06), AK1-ORM (theta = 0.17, z = 1.63), ALADH-ORM (theta = 0.13, z = 7.05) and AK1-ALADH (theta = 0.11, z = 2.45).

ABO Blood-Group System↗
PubMed1983

Genetics and linkage relationships of the C3 polymorphism: discovery of C3-Se linkage and assignment of LES-C3-DM-Se-PEPD-Lu synteny to chromosome 19.

The C3 complement system was examined in our Danish material of normal families, which had earlier been examined for 59 marker systems, and in a myotonic dystrophy family material. A total of 8 alleles were recognized, with allele frequencies as follows: C3*S = 0.7902, C3*F = 0.2018, C3*S rare (3 lumped together) = 0.0036, C3*F rare (2 lumped together) = 0.0024; a silent allele was recognized in three families and its frequency estimated to C3*QO = 0.002. The distribution of unrelated individuals did not deviate significantly from the Hardy-Weinberg expectation, it was not significantly different between the sexes, and for none of the mating types was there any significant deviation from the expected ratios of children. As to linkage relationships of C3 with marker systems and with myotonic dystrophy, there was evidence (most of it first presented at the 6th International Congress of Human Genetics, Jerusalem 1981) for synteny with ABH secretion (Se): C3-Se (males) z = 4.35, theta = 0.12 and with Lewis secretion (LES): C3-LES (males z = 3.63, theta = 0.04). There were indicative or suggestive lod scores for Se-PEPD (males & females z = 2.41, theta = 0.00), C3-Lu (z = 1.88, theta = 0.15), C3-DM (z = 1.69, theta = 0.06) and PEPD-C3 (male z = 0.95, theta = 0.17). The most likely sequence of these 6 systems would appear to be LES-C3-DM-(Se-PEPD)-Lu and the synteny would reside on chromosome 19.

ABO Blood-Group System↗
PubMed1983

Another case of a lymphocytotoxic antibody with blood group A1 Leb and A Led associated specificity.

A lymphocytotoxic antibody with blood group A1 Leb, and A (A1 + A2) Led, associated specificity was found together with an anti-HLA-DR2 in the serum of a multiparous woman. The A1 Leb and A Led-antibodies could be absorbed with erythrocytes from persons with blood group A1 or A2, irrespective of their Lewis antigens, even if their lymphocytes reacted negatively in this antibody, leaving anti-HLA-DR2 in the serum. Lymphocytes of blood group A1 were able to absorb the anti-A1 Leb and -A Led, whereas those of A2 could only absorb the anti-A Led. Saliva from persons with blood groups A1 Le (a - b +), A2 Le (a- b +), A1 Le (a - b -), secretor, and A2 Le (a - b -), secretor, inhibited the anti-A1 Leb and -A Led when tested in the serum/saliva ratio 50:1, which was not the case with other ABO-Lewis combinations. The woman who produced this antibody has blood group O Le (a - b +) and secretes H, Lea and Leb substances in about the same amount as do other individuals with blood group O Le (a - b +) used as controls. The anti-A in her serum has equal titers against A1 Le (a + b -) and A1 Le (a - b +) red cells.

ABO Blood-Group System↗
PubMed1981

Genetics of paraoxonase.

Danish family material comprising 1664 unrelated individuals (parents) and 3169 children, as well as 699 grandparents of the same families, were examined for paraoxonase activity. A micro-autoanalyser method, comprising a primary testing in tris buffer at pH 7.5 and, in the case of primarily intermediate individuals, a secondary testing at pH 10, was applied. This gave a better discrimination than testing only at pH 7.5, because individuals around the low mode of the primary activity distribution had their pH optimum at pH 10, while the optimum of individuals around the high was at pH 8.5. By this combined testing all individuals could be unequivocally classified as 'low' or 'high', and the family material was compatible with the low phenotype representing homozygosity for an autosomal recessive gene with a frequency plow = 0.726. Out of 5532 individuals, 5 showed an almost complete lack of paraoxonase activity.

Age Factors↗
PubMed1978

Neonatal and maternal lymphocytes in whole-blood cultures: absence of strong interaction.

The relative growth of neonatal and maternal lymphocytes was studied in PHA-stimulated mixed short-time whole-blood cultures, with particular regard to a possible inhibition of the maternal cells. For comparison, neonatal and maternal cells were grown separately. No uniform inhibition was observed, although there was an average 34% depression of growth of the maternal cells in the mixed cultures.

Female↗
PubMed1977

Colton blood groups: indication of linkage with the Kidd (Jk) system as support for assignment to chromosome 7.

A material of normal Danish families was tested for a number of genetic marker systems and analyzed for linkage. For the Colton-Kidd relationship the lod score was + 2.57. The Kidd system has earlier been tentatively assigned to chromosome 7 (Schokeir et al. 1973). The present data therefore permit a tentative assignment to chromosome 7 of the Colton system as well. The data also suggest that the discovery by Chapelle et al. (1975) of a conjunction of monosomy for chromosome 7 in the bone marrow of certain leukemia patients and absence of Colton antigen from the red cells may now be interpreted as being connected with location on chromosome 7 of the Colton system.

Blood Group Antigens↗