In:
Proceedings of the National Academy of Sciences, Proceedings of the National Academy of Sciences, Vol. 93, No. 23 ( 1996-11-12), p. 13060-13065
Abstract:
Bipolar mood disorder (BP) is a debilitating syndrome characterized
by episodes of mania and depression. We designed a multistage study to detect all major loci predisposing to severe BP (termed BP-I) in two
pedigrees drawn from the Central Valley of Costa Rica, where the population is largely descended from a few founders in the 16th–18th
centuries. We considered only individuals with BP-I as affected and screened the genome for linkage with 473 microsatellite markers. We
used a model for linkage analysis that incorporated a high phenocopy rate and a conservative estimate of penetrance. Our goal in this study
was not to establish definitive linkage but rather to detect all regions possibly harboring major genes for BP-I in these pedigrees. To
facilitate this aim, we evaluated the degree to which markers that were informative in our data set provided coverage of each genome region; we
estimate that at least 94% of the genome has been covered, at a predesignated threshold determined through prior linkage simulation
analyses. We report here the results of our genome screen for BP-I loci and indicate several regions that merit further study, including
segments in 18q, 18p, and 11p, in which suggestive lod scores were observed for two or more contiguous markers. Isolated lod scores that
exceeded our thresholds in one or both families also occurred on chromosomes 1, 2, 3, 4, 5, 7, 13, 15, 16, and 17. Interesting regions
highlighted in this genome screen will be followed up using linkage disequilibrium (LD) methods.
Type of Medium:
Online Resource
ISSN:
0027-8424
,
1091-6490
DOI:
10.1073/pnas.93.23.13060
Language:
English
Publisher:
Proceedings of the National Academy of Sciences
Publication Date:
1996
detail.hit.zdb_id:
209104-5
detail.hit.zdb_id:
1461794-8
SSG:
11
SSG:
12
