RESUMO

Homozygosity mapping is a very powerful method for finding rare recessive disease genes in monogenic disorders and may also be useful for locating risk genes in complex disorders, late onset disorders where parents often are not available, and for rare phenotypic subgroups. In the present study, homozygosity mapping was applied to 24 persons with bipolar disorder from 22 inbred families. The families were selected irrespective of whether other affected family members were present or not. A genome wide screen using genotypes from only a single affected person in each family was performed using the AFFYMETRIX GeneChip HuSNP Mapping Assay, which contains 1,494 single nucleotide polymorphisms. At chromosome 17q24-q25 a parametric multipoint LOD score of 1.96 was found at WIAF-2407 and WIAF-2405. When analyzing 19 additional microsatellite markers on chromosome 17q the maximum parametric multipoint LOD score was 2.08, 1.5 cM proximal to D17S668. The present study replicates a recent significant linkage finding.

Assuntos

Transtorno Bipolar/genética , Mapeamento Cromossômico/métodos , Predisposição Genética para Doença/genética , Genoma Humano , Polimorfismo de Nucleotídeo Único , Alelos , Cromossomos Humanos Par 17/genética , Consanguinidade , Cuba , Saúde da Família , Feminino , Frequência do Gene , Genótipo , Homozigoto , Humanos , Escore Lod , Masculino , Repetições de Microssatélites , Linhagem