8th Meeting of the Irish Society of Human Genetics, Monday 19th September 2005
نویسندگان
چکیده
Dysbindin is known to (a) bind ß-dystrobrevin in postsynaptic densities in a number of brain areas, and (b) be a component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Reduced levels of dysbindin have been identified presynaptically at hippocampal formation sites lacking ß-dystrobrevin in schizophrenia cases. This suggests a role for dysbindin in schizophrenia pathobiology independent of the ß-dystrobrevin complex and therefore possibly involving the BLOC-1 complex. As dysbindin is a susceptibility gene for schizophrenia, we considered the remaining 7 BLOC-1 genes as suitable candidate genes for association analysis. BLOC-1 consists of proteins encoded by at least 8 genes-dysbindin, MUTED, PLDN, CNO, SNAPAP, BLOC1S1, BLOC1S2 and BLOC1S3. Functional regions of all genes were subjected to mutation detection analysis using DHPLC. Polymorphic markers identified were supplemented with additional SNPs from dbSNP. All markers (n=50) were typed in a sample of 92 individuals to elucidate LD structure and inform on choice of markers (n=29) for analysis in our full sample of 373 schizophrenia cases and 812 controls. Evidence of association was detected with single markers at BLOC1S2 (p = 0.05) and BLOC1S3 (p = 0.003). We are currently testing our associated SNPs in a large independent replication sample. Should our results replicate independently it would suggest a role for BLOC-1 in schizophrenia etiology. Autism is a relatively common neurodevelopmental disorder characterized by impaired social interaction and communication, and repetitive and stereotyped behaviours and interests. It occurs in around 1 in every 1000 births, has an onset in the first three years after birth, and persists throughout life. There is a strong yet complex genetic component and since the biological basis of the disorder is unknown, much research is focused on the identification of susceptibility genes. Several groups have identified associations between autism and a wide area of chromosome 2q, suggesting a predisposing gene or genes to autism within the 2q region. We have previously reported a patient with high-functioning autism, who has a small but cytogenetically visible de novo translocation 46,XY, ins(9;2)(q31.1;q32.2q31.3). The chromosome 2q31.3-q32.2 region falls within the above linkage findings. This would appear to be the smallest known deletion of this part of chromosome 2, suggesting that the region includes a predisposing gene or genes for autism. UBE2E3, a gene encoding a ubiquitin-conjugating enzyme, lies just 3kb from the proximal breakpoint of this translocated region. This gene seemed, therefore, to be a good candidate for mutational screening for variants …
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