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We have examined the possible linkage of adrenocorticotropin receptor/melanocortin receptor‐2 (ACTHR/MC‐2) to a reported putative susceptibility locus for bipolar illness (BP) in 20 affected pedigrees. Initially, allelic variants of the gene were identified by polymerase chain reaction‐single stranded conformation polymorphism (PCR‐SSCP) and the gene was genetically mapped using both the Centre d'Etudes du Polymorphisme Humain (CEPH) pedigrees and the BP pedigrees used in this study. We found that the ACTHR/MC‐2 gene maps between D18S53 and D18S66. These loci span a region of chromosome 18 which, in a previous study (Berrettini et al.: Proc Natl Acad Sci USA 91:5918–5921, 1994) revealed a putative predisposing locus to BP through nonparametric methods of linkage analysis. Linkage of ACTHR/MC‐2 to BP was not demonstrable under parametric and nonparametric methods of analyses, although affected sib‐pair (ASP) method revealed an increase in allele sharing among ill individuals, P=0.023. Since this receptor is within a potential linkage region, ACTHR/MC‐2 could be considered a candidate gene for BP. © 1995 Wiley‐Liss, Inc. This Article is a U.S. Government work and, such as, is in the public domain in the United State of America.
American Journal of Medical Genetics Part A – Wiley
Published: Feb 14, 1996
Keywords: ; ;
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