Abstract

GENOME SCAN OF THREE LARGE EXTENDED COSTA RICAN PEDIGREES AFFECTED BY SCHIZOPHRENIA

Andrea Mesen-Fainardi
12th World Congress of Psychiatric Genetics. 2004.

Abstract

For the last 6 years we have performed sib pair studies in a significant number of families (n = ~90) derived from the relatively isolated population of the Central Valley of Costa Rica (DeLisi et al., 2001). During the last 2 years we started to identify and genotype large extended families affected with schizophrenia and bipolar disorder. To date, we have ascertained 3 large schizophrenia pedigrees: CR-01, CR-02, and CR-03. CR-01 contains 8 sampled schizophrenics available for analyses, CR-02 contains 11 sampled schizophrenics available for analyses, and CR-03 contains 9 sampled schizophrenics for analyses. Each of the families have been genotyped with microsatelltie markers every ~10 cM. We used FASTLINK 4.0 software package for testing parametric models and Simwalk 2 for nonparametric and multipoint analyses. Analyses have been completed for CR-02. Genome the highest lod score for CR-02 was 2.75 with D5S426, a marker 52 cM from the 5pter. This marker maps in the region identified by Silverman et al (1996) who analyzed a large Puerto Rican family of Spanish ancestry. CR-02 was additionally genotyped with flanking microsatellite every 1 to 2 cM. Nine of the twelve schizophrenics in CR-02 segregate a ~20 megabase halpotype. Additional results with CR-02 will be presented along with preliminary genome wide results with CR-01 and CR-03. This work was supported by the Pritzker Research Consortia.