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Linkage studies in bipolar affective disorder with markers on chromosome 21

Vallada, H., Craddock, Nicholas John, Vasques, L., Curtis, D., Kirov, George, Lauriano, V., Gentil, V., Passos-Beuno, R., Murray, R. M., Zatz, M., McGuffin, P., Powell, J. F., Gill, M., Owen, Michael John and Collier, D. A. 1996. Linkage studies in bipolar affective disorder with markers on chromosome 21. Journal of affective disorders 41 (3) , pp. 217-221. 10.1016/s0165-0327(96)00055-9

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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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: R Medicine > R Medicine (General)
R Medicine > RZ Other systems of medicine
Publisher: Elsevier
ISSN: 0165-0327
Last Modified: 17 Apr 2019 20:55

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