0000000000394600

AUTHOR

Ulrike Reuner

showing 3 related works from this author

A genome screen for genes predisposing to bipolar affective disorder detects a new susceptibility locus on 8q

2001

Bipolar affective disorder (BPAD), also known as manic depressive illness, is a severe psychiatric disorder characterized by episodes of mania and depression. It has a lifetime prevalence of approximately 1% in all human populations. In order to identify chromosomal regions containing genes that play a role in determining susceptibility to this psychiatric condition, we have conducted a complete genome screen with 382 markers (average marker spacing of 9.3 cM) in a sample of 75 BPAD families which were recruited through an explicit ascertainment scheme. Pedigrees were of German, Israeli and Italian origin, respectively. Parametric and non-parametric linkage analysis was performed. The highe…

MaleBipolar DisorderGenotypePopulationPedigree chartLocus (genetics)BiologyNuclear FamilyVeinsGenomic ImprintingGenetic linkageLeukocytesGeneticsmedicineHumansGenetic Predisposition to DiseaseGenetic TestingBipolar disordereducationMolecular BiologyGenetics (clinical)Chromosomes Human Pair 14Geneticseducation.field_of_studyAutosomeChromosome MappingDNAGeneral Medicinemedicine.diseasePedigreePhenotypeChromosomes Human Pair 2FemaleLod Scoremedicine.symptomGenomic imprintingManiaChromosomes Human Pair 16Chromosomes Human Pair 8Microsatellite RepeatsHuman Molecular Genetics
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Linkage studies of bipolar disorder in the region of the Darier's disease gene on chromosome 12q23-24.1.

1995

We have recently described a family in which there is cosegregation of major affective disorder with Darier's disease and have mapped this autosomal dominant skin disorder to 12q23-q24.1. This has provided an interesting candidate region for genetic studies of bipolar disorder. We have studied the segregation of seven markers spanning the Darier's disease locus in 45 bipolar disorder pedigrees and found modest evidence in support of linkage under heterogeneity for 5 of these markers. Nonparametric analyses were suggestive of linkage with a marker at the gene encoding a secretory form of phospholipase A2. Our sample has relatively low power to detect linkage under heterogeneity and independe…

Genetic MarkersMaleCandidate geneBipolar DisorderCosegregationGenotypeGenetic LinkageLocus (genetics)BiologyPhospholipases AGene mappingDarier DiseaseGenetic linkageDarier's diseasemedicineHumansBipolar disorderGenetics (clinical)AllelesGenes DominantGeneticsChromosomes Human Pair 12Chromosome Mappingmedicine.diseasePedigreePhospholipases A2FemaleLod ScoreDarier DiseaseAmerican journal of medical genetics
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Systematic screening for mutations in the promoter and the coding region of the 5-HT1A gene.

1995

In the present study we sought to identify genetic variation in the 5-HT{sub 1A} receptor gene which through alteration of protein function or level of expression might contribute to the genetic predisposition to neuropsychiatric diseases. Genomic DNA samples from 159 unrelated subjects (including 45 schizophrenic, 46 bipolar affective, and 43 patients with Tourette`s syndrome, as well as 25 healthy controls) were investigated by single-strand conformation analysis. Overlapping PCR (polymerase chain reaction) fragments covered the whole coding sequence as well as the 5{prime} untranslated region of the 5-HT{sub 1A} gene. The region upstream to the coding sequence we investigated contains a …

GeneticsSilent mutationMutationBipolar DisorderBase SequenceMolecular Sequence DataNucleic acid sequenceBiologyGene mutationmedicine.disease_causeReceptors SerotoninGenetic variationMutationGenetic predispositionmedicineSchizophreniaCoding regionHumansGeneReceptors Serotonin 5-HT1Genetics (clinical)Polymorphism Single-Stranded ConformationalTourette SyndromeAmerican journal of medical genetics
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