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H Eiberg

Publications and source records attributed to H Eiberg.

At least 91 records · Page 5Linked to original sources
PubMed1990

An exclusion map of Marfan syndrome.

The combined genetic data between the Marfan syndrome and 75 informative loci on 18 autosomes were used to construct an exclusion map for this disorder. Data are also presented for a further two unmapped markers. The most likely location of the Marfan syndrome gene is highlighted and all the unexcluded areas of the genome are displayed in a graphical form. This exclusion map shows that almost 75% of the genome has been excluded as a likely location for the Marfan syndrome gene in the majority of the families studied. Apart from chromosomes 8, 13, 21, and 22, for which no data were available, other regions not excluded yet include 5p, 6p, 9p, 10p, 12p, 15, 17p, 18, and 20p. Future linkage analysis using markers located in the highlighted regions should facilitate the identification of the site of the Marfan syndrome gene.

Chromosome Mapping↗
PubMed1989

Linkage between serum cholinesterase 2 (CHE2) and gamma-crystallin gene cluster (CRYG): assignment to chromosome 2.

Serum cholinesterase 2 (CHE2) was examined in a Danish material of normal families that has been tested earlier for 70-78 classical marker systems and 25 RFLP systems. DNA for RFLP typing was provided by transforming 16-year-old frozen lymphocytes. The frequency of allele CHE2*C5+ in the Danish population was found to be 0.0430. The highest lod score was between CHE2 and the gamma-crystallin gene cluster (CRYG) (zeta = 4.21 at theta = 0.00 in females). The scores were from a single family with 15 children. CHE2 may, accordingly, be assigned to the location of CRYG: chromosome 2, bands q33-q35.

Blood Grouping and Crossmatching↗
PubMed1989

Autosomal dominant congenital cataract. Morphology and genetic mapping.

We studied a large Danish pedigree with autosomal dominant congenital cataracts (ADCC) in 9 generations. Morphological characteristics of the cataracts are described and documented by photos. In contrast with several other types of ADCC the cataracts studied were progressive during infancy and childhood. Linkage analysis with 14 marker systems revealed close linkage between this Marner cataract locus (CAM) and the locus of Haptoglobin (HP) on chromosome 16. Genetic heterogeneity in ADCC has now established with the genetic mapping of cataract loci to chromosome 1, chromosome 2, and chromosome 16.

Adolescent↗
PubMed1989

Linkage relations of the locus for granular corneal dystrophy Groenouw type I with 35 polymorphic systems.

The paper presents preliminary results of linkage relations of the locus for granular corneal dystrophy Groenouw type I employing 35 classic genetic markers. Blood and saliva from 124 members of one family with this disorder were examined with the aim of localizing the disease to a certain chromosome. The highest lodscore was 1.04 in females at theta 0.00 to the system C1R, thus supplying a clue for continued gene-mapping investigations on the short arm of chromosome No. 12.

Adolescent↗
PubMed1989

Linkage between alpha 1B-glycoprotein (A1BG) and Lutheran (LU) red blood group system: assignment to chromosome 19: new genetic variants of A1BG.

alpha 1B-glycoprotein (A1BG) polymorphism was examined in a Danish family material (no. 604-1505) with particular regard to markers on chromosome 19. For A1BG-LU we found a lod score z = 3.06 at theta = 0.05 in males, and z = 1.42 at theta = 0.10 in females, which assigns A1BG to chromosome 19. Close linkage to C3, SE, PEPD, APOC2, D19S7, D19S8 and D19S9 was excluded. The most likely order would appear to be C3-SE-LU-A1BG.

Alleles↗
PubMed1987

Major genes of eye color and hair color linked to LU and SE.

Eye color and hair color were studied in a large Danish family material, tested earlier for a comprehensive set of genetic marker systems. We found strong evidence for linkage of "green eye color" or GEY to the Lutheran-Secretor systems (combined lod score 9.19). This would appear to identify a major gene with influence towards "green eye color". We also found evidence for linkage of GEY to "brown hair color" or BRHC (lod score 5.06), which would appear to identify a second major gene influence in the same region of chromosome 19. Concerning the obvious association in the general population between eye color and hair color which could imitate linkage if it were reflected within sibships, we did not recognize any such intrafamilial association; in the pooled informative sibships GEY and BRHC were independently distributed (as were LU-SE and GEY).

ABO Blood-Group System↗
PubMed1987

Dyslexia and chromosome 15 heteromorphism: negative lod score in a Danish material.

From a large Danish material of random families we selected families with dyslexia as reported by the families themselves and as recorded by a dyslexia institute. Among five "backcross families" studied for chromosome 15 polymorphisms we found only negative lod scores, and at theta = 0.10 a negative score of -3.42; i.e., in our material we did not find any confirmation of the indication of linkage between dyslexia and a chromosome 15 polymorphism found in part of their material by Smith et al. (1983, 1986).

Chromosomes, Human, Pair 15↗
PubMed1987

Major locus for red hair color linked to MNS blood groups on chromosome 4.

Red hair color (RHC) was studied in a Danish material of normal families that was tested earlier for 65 marker systems. We found 4.85% of the parents to be red-haired or to have been so early in life. Scoring RHC for linkage as an autosomal dominant against blond and as hypostatic to dark hair gave a lod score of z = 5.50 at theta = 0.05 in males and theta = 0.24 in females for the MNS blood group system; this assigns a major locus for red hair to chromosome 4.

Chromosome Mapping↗
PubMed1987

Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6.

A Danish material of 58 pedigrees with nonsyndromic orofacial cleft, selected out of a comprehensive Danish material for suggestiveness of autosomal dominant inheritance, was studied for linkage with 42 non-DNA polymorphic marker systems. Both cleft lip with or without cleft palate (CL(P)) and cleft lip alone (CP) were, for the purpose of linkage analysis, scored as if they were due to an autosomal dominant gene with complete penetrance. The highest lod score was with the blood clotting factor XIIIA (F13A): for males alone z = 3.40 at theta = 0.00, for females alone z = 0.30 at theta = 0.21, and for these together z = 3.66 at at theta = 0.00 for males and 0.26 for females. Since F13A is known to be located distally on chromosome 6, we tentatively assign a major locus for orofacial cleft to this region. Since both CL(P) and CP pedigrees contribute to the positive score, the question arises whether this locus carries two cleft alleles.

Chromosome Mapping↗
PubMed1986

Identity of the polymorphisms for esterase D and S-formylglutathione hydrolase in red blood cells.

The S-formylglutathione hydrolase (FGH) polymorphism of human red blood cells was studied in unrelated individuals, both by isoelectric focusing and starch gel electrophoresis, and with the substrates S-acetylglutathione and 4-methylumbelliferyl-acetate (the standard substrate for esterase D (ESD]. With both separation techniques the two substrates consistently gave similar and identically located zymograms. Thus, FGH (E.C.3.1.2.12) appears to be identical to ESD (E.C.3.1.1.1).

Carboxylesterase↗
PubMed1986

Linkage of transcobalamin II (TC2) to the P blood group system and assignment to chromosome 22.

The linkage relationships of transcobalamin II (TC2) against 64 other marker systems are studied in a Danish family material (families 604-1505). A strong indication of linkage between TC2 and the blood group system P was discovered (z = 7.91 at theta = 0.14 for males and theta = 0.20 for females combined). Accordingly, TC2 could be assigned to chromosome 22 (since blood group P has earlier been assigned to this chromosome).

Blood Group Antigens↗
PubMed1986

Linkage between the loci for cystic fibrosis and paraoxonase.

In a material of 22 Danish, 26 Canadian, 10 Australian, 5 English and 5 American families with at least 2 children affected with cystic fibrosis (CF) a combined positive LOD score of 3.46 was found for the relationship cystic fibrosis-paraoxonase (PON) at recombination fraction theta = 0.07 in males and theta = 0.13 in females. Assuming a three allele model for PON the LOD score was 4.50 at the same recombination fractions. This confirms our earlier finding of an indication of CF-PON synteny.

Alleles↗
PubMed1986

Number of "high genes" involved in determining the activity of paraoxonase.

The genetics of paraoxonase activity is further analysed on the basis of a Danish family material (Eiberg & Mohr 1981), namely a random sample of the investigated two mating types. The starting point is the earlier assumption that the segregation into high and low activity is due to alleles on a single locus with the frequency 0.726 of low genes (Eiberg & Mohr 1981, Nielsen et al. 1986). It is shown that a hypothesis of two "high genes", h1 and h2 on the same locus, with allele frequencies 0.117 and 0.157, both high genes being dominant over low genes and h2 dominant over h1, may explain the observed pattern of segregation. The hypothesis would imply average activities of genotype 1h1 of 960 microM PNP/1, of 1h2 1385 microM PNP/1, of h1h1 1202 microM PNP/1, and of h1h2 and h2h2 2048 microM PNP/1. It cannot be excluded that there are more than two "high genes". It is further shown that more than one "low gene" must be involved.

Alleles↗
PubMed1986

Number of loci responsible for the inheritance of high and low activity of paraoxonase.

On the basis of a Danish family material of Eiberg & Mohr (1981), especially 416 matings with 1595 children where the one parent has high activity of paraoxonase and the other low activity, and the 185 matings with 684 children where both parents have high activity, it is, by consideration of a two-loci model and other alternatives besides the earlier suggested one-locus model, confirmed that segregation into high and low activity is largely or exclusively due to a one-locus system; in case any secondary locus is involved, its most common allele would probably have a frequency above 0.95.

Adult↗
PubMed1986

Proposal for the nomenclature of human plasminogen (PLG) polymorphism.

Since its discovery, human plasminogen (PLG) polymorphism has received widespread acceptance in population genetics and forensic haematology. Due to the large number of variant alleles described, a PLG reference typing and Plasminogen Symposium was held, at which a nomenclature proposal was inaugurated. The technology of comparing PLG variants was based on isoelectric focusing and subsequent detection by caseinolytic overlay and 'Western' blotting. Typing results permitted comparison of so far described variant designations and resulted in a new nomenclature proposal for PLG polymorphism. It is recommended that the two most common alleles found in all investigated races be called: PLG*A (previously also PLG*1) and PLG*B (previously also PLG*2), the known variants with acidic pI: PLG*A1 to *A3, intermediate variants: PLG*M1 to *M5, PLG*M5 being functionally inactive, and basic variants: PLG*B1 to *B3. For future classification of newly discovered variants, samples should be compared at any of the laboratories participating in the reference typing.

Collodion↗