Genomic screening for genes predisposing to bipolar disease

Wade H. Berrettini, Sevilla D. Detera-Wadleigh, Lynn R. Goldin, Maria Martinez, Wang Ting Hsieh, Margaret Hoehe, Henry Choi, David Muniec, Thomas N. Ferraro, Juliet G. Guroff, Diane Kazuba, Nina Harris, Eric Kron, John I. Nürnberger, Robert C. Alexander, Elliot S. Gershon

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


Twenty-one multiplex bipolar (BP) families, consisting of 365 informative persons (of whom 153 have BPI, schizoaffective, BPII with major depression or recurrent unipolar diagnoses) were studied in a systematic screening of chromosomes 1, 10q, 11q, 13, 15 and 17 for linkage, using DNA markers. Simulation research has indicated that this pedigree series has greater than 50% power to detect linkage when only 25% of families are linked (1% recombination) to the marker. Two and three-point linkage analysis (using the diagnoses mentioned above as affected and an autosomal dominant disease mode1) did not reveal any evidence for linkage (total lod scores less than -2) under the hypothesis of homogeneity. Inspection of two-point lod scores by family did not reveal evidence for heterogeneity in nearly all cases. Heterogeneity analyses using the admixture test were conducted for a region of 11q13 (where inspection of 2-point analyses for individual families revealed several weakly positive lod scores) which yielded a maximum lod score of 1.5 when the fraction of linked families was estimated at 25%. These results indicate that a gene responsible for BP disease in a majority of the families studied is unlikely to originate within the chromosomal regions covered by the DNA markers used.

Original languageEnglish (US)
Pages (from-to)191-208
Number of pages18
JournalPsychiatric Genetics
Issue number3
StatePublished - Mar 1991
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)
  • Psychiatry and Mental health
  • Biological Psychiatry


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