Molecular Genetics of Bipolar Disorder and Related Traits

摘要: The unraveling of the underlying genetic basis in diseases has accelerated rapidly as a result dramatic advances field molecular genetics, and will hopefully due course lead to innovative, effective treatments for many human diseases. Statistical genetics plays an important role nearly every aspect modern whether one is attempting find genes responsible rare monogenic disorders or complex conditions, create genomic map, establish interactions inheritance environment development common Molecular research fundamentally medicine elucidation basic mechanisms biological systems. In this thesis different applications statistical methods have been used explore component bipolar disorder related traits. Here, 41 families affected with ascertained from isolated population Finland, presuming that presence stronger environmental homogeneity than other populations advantage gene localization. A genome-wide scan was performed identifying possible susceptibility regions disorder. strongest evidence linkage provided by locus on 16p12 two-point analysis (Zmax = 3.4) 4q32 three-point 3.6). Encouraging results were also observed chromosomes 12q23 Xq25 (lod score > 2.0). latter already identified previous study hence, denser marker map constructed covering 13cM critical region. earlier found extended pedigree displaying several generations. order test general significance finding, well narrow down linked area, family sample consisting 40 additional utilized analysis. Xchromosomal finding replicated pedigrees, however only modest significance. region consequently somewhat narrowed, it established search represents major family. extract all information performed, strategies cluster re-analyze sample. line study, available worldwide genome scans re-analyzed meta-analysis. From could be concluded strong detected individual samples not when combining studies worldwide. However, weaker findings seemed quite consistent across now stood out given power. type genotype data our conducted schizophrenia using Finnish combined. Instead assessing disease entities defined DSM-IV, shared traits two such psychotic affective symptoms examined. This revealed distinct chromosome 6p21 5q14.