title: Linkage studies in bipolar affective disorder with markers on chromosome 21.
abstract: Straub et al. (1994: Nature Genet. 8. 291-296) have suggested that a susceptibility gene for bipolar affective disorder is located at chromosome 21q22.3, on the basis of linkage analysis in one large family. This result has been supported by Gurling et al. (1995: Nature Genet. 10, 8-9) who also found some evidence for linkage to this region under locus heterogeneity. In order to investigate the validity of these results and to estimate how broadly applicable they are, we performed a linkage study between bipolar affective disorder and two DNA markers (D21S171 and PFKL) from 21q22.3 using 60 bipolar pedigrees from three European centres and Brazil. The most positive result obtained was a maximised admixture lod score of 1.2 for the marker PFKI, under the assumption of locus heterogeneity, dominant transmission and a diagnostic classification which included recurrent unipolar depression. However, since lod scores obtained for both markers were substantially negative overall, we conclude that there is no common major gene for bipolar affective disorder at 21q22.3. It remains possible that a gene of major effect in this region operates in a minority of families.
authors.affiliation: Department of Psychological Medicine, Institute of Psychiatry, London, UK.
authors.forename: H
authors.initials: H
authors.lastname: Vallada
authors.forename: N
authors.initials: N
authors.lastname: Craddock
authors.forename: L
authors.initials: L
authors.lastname: Vasques
authors.forename: D
authors.initials: D
authors.lastname: Curtis
authors.forename: G
authors.initials: G
authors.lastname: Kirov
authors.forename: V
authors.initials: V
authors.lastname: Lauriano
authors.forename: V
authors.initials: V
authors.lastname: Gentil
authors.forename: R
authors.initials: R
authors.lastname: Passos-Bueno
authors.forename: R M
authors.initials: RM
authors.lastname: Murray
authors.forename: M
authors.initials: M
authors.lastname: Zatz
authors.forename: P
authors.initials: P
authors.lastname: McGuffin
authors.forename: J F
authors.initials: JF
authors.lastname: Powell
authors.forename: M
authors.initials: M
authors.lastname: Gill
authors.forename: M
authors.initials: M
authors.lastname: Owen
authors.forename: D A
authors.initials: DA
authors.lastname: Collier
mesh_terms: D001714:Bipolar Disorder / Q000235:genetics*; D001938:Brazil; D002891:Chromosomes, Human, Pair 21; D003866:Depressive Disorder / Q000235:genetics; D005060:Europe; D005787:Gene Frequency / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics*; D006801:Humans; D008957:Models, Genetic; D010641:Phenotype; D011618:Psychotic Disorders / Q000235:genetics
chemical_list: D005819:Genetic Markers