title: An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree.
abstract: Bipolar affective disorder (BPAD), also known as manic-depressive illness, is a common complex, polygenic disorder characterised by recurrent cyclic episodes of mania and depression. Family, twin, and adoption studies strongly suggest a genetic predisposition/susceptibility to BPAD, but no genes have yet been identified. We studied a large Turkish pedigree, with an apparently autosomal dominant BPAD, which contained 13 affected individuals. The age of onset ranged from 15-40 with a mean of 25 years. The phenotypes consisted of recurrent manic and major depressive episodes, including suicidal attempts; there was usually full remission with lithium treatment. A genome-wide linkage analysis using a dominant mode of inheritance showed strong evidence for a BPAD susceptibility locus on chromosome 20p11.2-q11.2. The highest 2-point lod score of 4.34 at theta = 0 was obtained with markers D20S604, D20S470, D20S836 and D20S838 using a dominant model with full penetrance. Haplotype analysis enabled the mapping of the BPAD locus in this family between markers D20S186 and D20S109, to a region of approximately 42 cM.
authors.affiliation: Division of Medical Genetics, University of Geneva Medical School, Geneva, Switzerland.
authors.forename: U
authors.initials: U
authors.lastname: Radhakrishna
authors.forename: S
authors.initials: S
authors.lastname: Senol
authors.forename: H
authors.initials: H
authors.lastname: Herken
authors.forename: K
authors.initials: K
authors.lastname: Gucuyener
authors.forename: C
authors.initials: C
authors.lastname: Gehrig
authors.forename: J L
authors.initials: JL
authors.lastname: Blouin
authors.forename: N A
authors.initials: NA
authors.lastname: Akarsu
authors.forename: S E
authors.initials: SE
authors.lastname: Antonarakis
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D001714:Bipolar Disorder / Q000235:genetics* / Q000473:pathology; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree; D019683:Penetrance; D010641:Phenotype; D014421:Turkey
chemical_list: D004247:DNA