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H Eiberg

Publications and source records attributed to H Eiberg.

At least 73 records · Page 4Linked to original sources
PubMed1995

A possible locus for manic depressive illness on chromosome 16p13.

We have previously reported possible evidence for linkage between manic depressive illness and the locus at 16p13.3 encoding the enzyme phosphoglycolate phosphatase (PGP), in the larger of two Danish families. As PGP was not fully informative, 12 additional DNA markers were tested in these families to clarify if a gene involved in the etiology of manic depressive illness might be located on chromosome 16p13. Though not reaching a lod score level of 3.0, the possible presence of a disease gene for manic depressive illness on chromosome 16p13 was still suggested. The evidence for a dominant locus near PGP was weakened. However, when assuming a recessive mode of inheritance and including both families a two-point lod score of 2.52 was found for marker D16S510, and a three-point lod score of 2.65 in both families combined and 2.29 in the large family alone was obtained in the same area. Simulations indicated that lod scores as obtained for several markers in the large family alone, would occur only rarely with an unlinked marker.

Bipolar Disorder↗
PubMed1995

No evidence of linkage between manic depressive illness and the dopa decarboxylase gene or nearby region on chromosome 7p.

Dopa decarboxylase (DDC) is involved directly in the synthesis of dopamine and serotonin and indirectly in the synthesis of noradrenaline. The present study investigated two Danish families for linkage between manic depressive illness, a marker at the DDC locus which has been mapped to 7p11-p13 and 10 microsatellite markers covering chromosome 7q11-p15. No evidence of linkage was found assuming a dominant or a recessive mode of inheritance. We have earlier reported evidence against linkage between manic depressive illness and tyrosine hydroxylase and dopamine beta-hydroxylase. Mutations of major importance in the genes encoding the three enzymes involved in the synthesis of dopamine and noradrenaline seem less likely in the families we have studied. Further investigations of genetic and other pathophysiological mechanisms in relation to the monoamine hypotheses for manic depressive illness are still of relevance. There is a need for further linkage and association studies as well as a search for possible mutations in the relevant genes involved in the monoaminergic pathways to clarify their possible role in the aetiology of manic depressive illness.

Bipolar Disorder↗
PubMed1994

Linkage analysis between manic-depressive illness and 35 classical markers.

The present study used carefully established phenotypes, several methods to reduce misclassification, and conservative genetic parameters. For the 35 markers investigated no evidence of linkage to manic-depressive illness was found, especially not to the markers on chromosomes 4q, 9q, and 19, which earlier has been suggested as possibly being linked to subtypes of manic-depressive illness. Close linkage to FY and SS (GYPB) was excluded for all chosen phenotypic models and to ACP1 and ADA for broader phenotypic models.

Adult↗
PubMed1994

Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3.

We studied a large multigeneration Danish family with autosomal dominant congenital stationary night blindness. Both electrophysiological and psychophysical findings in affected family members were identical to those reported in patients from the 'Nougaret family'. The disease locus in the Danish family has now been mapped by demonstrating close linkage without recombination (Q = 0.00 at Zmax = 14.4) to the locus for alpha-L-iduronidase assigned to chromosome 4p16.3. Interestingly the gene for the beta-subunit of the rod photoreceptor cGMP-specific phosphodiesterase maps to the very same chromosomal region.

Chromosome Mapping↗
PubMed1994

Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.

Dominant optic atrophy, type Kjer (McKusick no. 165500) is an autosomal dominant eye disease. The disease is characterized by moderate to severe visual impairment with an insidious onset during the first decade of life, blue-yellow dyschromatopsia and centrocecal scotoma of varying density. We examined three extended Danish pedigrees using highly informative short tandem repeat polymorphisms and found linkage of the disease gene (OPA1) to a (CA)n dinucleotide repeat polymorphism at locus D3S1314 (Zmax = 10.34 at theta M = F = 0.075). Using two additional chromosome 3 markers we were able to map the OPA1 gene in the region between D3S1314 and D3S1265 (3q28-qter).

Chromosome Mapping↗
PubMed1994

Linkage analysis between manic depressive illness and the dopamine beta-hydroxylase gene.

The dopamine beta-hydroxylase (DBH) gene is a candidate gene in manic depressive illness. DBH is required for conversion of dopamine to norepinephrine, the third step in catecholamine biosynthesis. A few earlier linkage studies have found low to moderately positive lod scores in manic depressive families for ABO which is closely linked to DBH. Based on several studies an association between manic depressive illness and ABO blood type has been suggested. Mutations at the DBH locus might thus be involved in the etiology of manic depressive illness in some families. The DBH gene is reported here as unlikely to be a major gene causing manic depressive illness in a large family. Linkage was excluded assuming a dominant mode of transmission. Several methods were used to minimize misclassification.

Bipolar Disorder↗
PubMed1994

Assignment of granular corneal dystrophy Groenouw type I (CDGG1) to chromosome 5q.

Granular corneal dystrophy Groenouw type I (CDGG1) is an autosomal dominant disease with complete penetrance. 124 blood samples were collected from a single Danish pedigree of seven generations. Linkage was discovered with markers on chromosome 5q, with IL9 (Z = 15.96; theta M = 0.027, theta F = 0.00) and D5S436 (Z = 11.75; theta M = 0.00, theta F = 0.081) flanking the disease locus most closely. The marker IL9 is located in the region 5q22-q32. By multilocus linkage analysis the most likely position of CDGG1 among 9 markers was: D5S396-IL9-CDGG1-D5S436-D5S210/D5S207++ +-D5S434-D5S119-D5S211 and CDGG1-D5S402-D5S434. In each of two independent small pedigrees, in which a milder form of CDGG1 occurs, the disease gene was also linked to IL9 (Z = 3.02 at theta = 0.0 in males and females); i.e. the severe and the milder forms may be allelic.

Child↗
PubMed1993

Suggestion of linkage between manic-depressive illness and the enzyme phosphoglycolate phosphatase (PGP) on chromosome 16p.

Two large Danish pedigrees with manic-depressive illness (MDI) were ascertained through bipolar probands. The pedigrees include bipolar as well as unipolar cases. An autosomal dominant mode of inheritance with incomplete penetrance was assumed. Linkage relationships between MDI and 37 autosomal serum, enzyme and blood group markers were investigated. For phosphoglycolate phosphatase, a maximum lod score of 2.20 at 0% recombination was found for the largest family. The other family was not informative. This may suggest assignment of a major gene for MDI to chromosome 16p13.

Bipolar Disorder↗
PubMed1992

[Preclinical and prenatal diagnosis of familial adenomatous polyposis].

In order to investigate the possibility of preclinical and prenatal genetic diagnosis of familial adenomatous polyposis (FAP) by means of DNA-systems and other markers, blood samples were collected from 246 persons in 29 families, including 90 with the clinical diagnosis FAP and 73 clinically unaffected first degree relatives (persons at risk). The material was studied with up to 4 DNA-marker systems located in the region around the disease gene. Among the first degree relatives eight (11%) had probably inherited the disease gene, while 31 persons (42%) in this risk group had probably not inherited the gene. It was not possible to evaluate the risk in the remaining 34 persons (47%). In 45 (85%) out of 53 persons under 40 years the DNA-systems were informative, so that it would be possible to offer the option of prenatal diagnosis. It is concluded that preclinical and possibly prenatal genetic diagnosis may be offered; but the current practice of prophylactic proctosigmoidoscopic surveillance should be maintained.

Adenomatous Polyposis Coli↗
PubMed1992

Transferrin subtypes in 51 Danish patients with hereditary haemochromatosis and in 847 normal subjects.

Transferrin (TF) subtypes were determined by isoelectric focusing in 51 unrelated Danish patients with hereditary haemochromatosis (HH) and in 847 normal subjects. The following TF phenotype frequencies were observed in HH patients and controls, respectively: TF*C1, 70.6% vs. 58.8%; TF*C2, 5.9% vs. 2.4%; TF*C3, 0% vs. 0.4%; TF*C1-2, 11.8% vs. 24.7%; TF*C1-3, 5.9% vs. 9.7%; TF*C2-3, 3.9% vs. 2.2%; TF*B-C1, 2.0% vs. 1.5%; TF*B-C2, 0% vs. 0.4%. None of these differences were statistically significant. There was no relationship between the TF subtypes and the clinical or paraclinical expression of disease in HH patients.

Denmark↗
PubMed1992

Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity.

Congenital cataract is a heterogeneous disorder. Approximately one third of the cases are hereditary. A large family with autosomal dominant congenital cataract is described here. Clinical examinations showed variable expressivity, but all affected persons were eventually operated, most of them in the first or second decade of life. Linkage relations with a number of polymorphic marker systems were studied, all of them being negative. Among the 21 systems studied were Fy, HP, D16S4 and CRYG. The present autosomal dominant congenital cataract is termed the Volkman cataract, after the ancestor in the pedigree, and is genotypically different from the Marner cataract found in another large Danish pedigree.

Cataract↗
PubMed1990

Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity.

Retinitis pigmentosa (RP) is the most prevalent human retinopathy of genetic origin. Chromosomal locations for X-linked RP and autosomal dominant RP genes have recently been established. Multipoint analyses with ADRP and seven markers on the long arm of chromosome 3 demonstrate that the gene for rhodopsin, the pigment of the rod photoreceptors, cosegregates with the disease locus with a maximum lod score of approximately 19, implicating rhodopsin as a causative gene. Recent studies have indicated the presence of a point mutation at codon 23 in exon 1 of rhodopsin which results in the substitution of histidine for the highly conserved amino acid proline, suggesting that this mutation is a cause of rhodopsin-linked ADRP. This mutation is not present in the Irish pedigree in which ADRP has been mapped close to rhodopsin. Another mutation in the rhodopsin gene or in a gene closely linked to rhodopsin may be involved. Moreover, the gene in a second ADRP pedigree, with Type II late onset ADRP, does not segregate with chromosome 3q markers, indicating that nonallelic as well as perhaps allelic genetic heterogeneity exists in the autosomal dominant form of this disease.

Amino Acid Sequence↗
PubMed1990

Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16.

The ceroid-lipofuscinoses are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in neurons and other cell types. The underlying biochemical defect is unknown. Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) displays autosomal recessive inheritance. Genetic linkage studies were undertaken to determine the chromosomal location of the Batten disease mutation (CLN3). Following identification of linkage to the haptoglobin locus, linkage analysis has been carried out in 42 families by using DNA markers for loci on the long arm of human chromosome 16. The maximal lod score between Batten disease and the locus D16S148 calculated for combined sexes is 6.05 at a recombination fraction theta = 0.00. Multilocus analysis using five loci indicated the most likely order to be HP-D16S151-D16S150-CLN3-D16S148-D16S147. The maximal location score for CLN3 was 48 (equivalent to a lod score of 10.4) in that interval within this fixed marker map.

Chromosome Mapping↗
PubMed1990

An MHC (HLA-A, -B, C2, BF, HLA-DR, GLO1) haplotype study of 497 Danish normal families with 1970 children including 97 twin pairs.

Extended MHC haplotypes comprising HLA-A, -B, -DR, C2, BF and GLO1 loci observed in the parents of 497 Danish normal families are presented, with particular regard to the haplotypes that include BF variants or the C2*2 allele. The known association of HLA-B35, -DR1 with both -A3 and -A11 appeared to depend upon the BF type: HLA-B35, BF*S, -DR1 is strongly associated with -A11, whereas -B35,BF*F,-DR1 is strongly associated with -A3. Further, in the present material DZ twins of the same sex shared HLA-haplotypes more often than did twin pairs of different sex.

Denmark↗