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ID 512

Identifying the DISC1 Gene

Description:
Professor David Porteous describes how his group was first alerted to the DISC1 gene, which was found in a family with a pedigree of schizophrenia and psychoses.
Transcript:
Well this has got an interesting history because there's been a bit of a tradition in Edinburgh of asking the question "are there examples of complex disorders like schizophrenia that are associated with particular cytogenetic abnormalities?" So the history in the case of DISC1, starts with a case of a young man with adolescent conduct disorder, who when blood cells were examined and the chromosomes looked at, turned out to have a balanced translocation between chromosomes 1 and chromosome 11. When we then looked at his relatives, we saw two things. First that that balanced translocation, damaging a precise point on chromosome 1 where it broke and rejoined with chromosome 11, was present in other family members, in fact about half the family members had that translocation. The next thing that we observed was that those family members with the translocation had a very high frequency of schizophrenia or schizophrenia-like symptoms. And when we looked at that statistically, we could see a very, very strong correlation between the presence of the translocation and the presence of psychiatric diagnoses. So that was our starting point on the long hunt for the gene.
Keywords:
DISC1, disc, disrupted, scizophrenia, porteous, edinburgh, chromosome 11, scottish, family, scotland, conduct disorder, synaptic
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