Analysis of a bipolar affective disorder susceptibility locus on chromosome 4q35

L. J. Adams*, R. F. Badenhop, J. A. Morris, M. J. Moses, A. Scimone, L. Ma, A. M. Jones, K. Mathavan, J. A. Donald, J. E. Hewitt, S. D. Detera-Wadleigh, P. B. Mitchell, C. P. Austin, P. R. Schofield

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)


Bipolar affective disorder (BAD) has a lifetime prevalence of 1-2%, and strong heritability is highly suggestive of a genetic component. A 15 cM genome-wide screen of microsatellite markers on 35 individuals from a large and informative Australian pedigree has identified a potential susceptibility locus on chromosome 4q35 (1). Analysis of five markers at 4q35 in a total of 545 individuals (including 158 affecteds) from 41 pedigrees results in a maximum two-point LOD score of 2.56 for D4S1652. A disease haplotype has been found in six of these pedigrees and recombinations within these families narrow the susceptibility region to approximately 4 Mb near the telomeric end of chromosome 4q35. Analysis of the 97 pedigree NIMH cohort (2) also showed six pedigrees with suggestive linkage to chromosome 4q35 and carrying a potential disease haplotype. Using the known EST and STS markers in the region, a YAC/BAC contig has been constructed in order to facilitate the examination of candidate genes. BACs have been identified for 31 markers and 24 ESTs and genes in this region. Candidate genes located within the probable critical region include melatonin receptor 1A (MTNR1A), adenine nucleotide translocator 1 (ANT1) and FSHD region 1 (FRG1), amongst others. Direct sequence analysis of these candidate genes is being used to identify SNP variation. The SNPs are being examined over a population cohort to determine their importance as potential susceptibility alleles.

Original languageEnglish
Pages (from-to)469
Number of pages1
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number4
Publication statusPublished - 7 Aug 2000


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