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Journals and Conferences
The main clinical feature of bipolar affective disorder is a change of mood to depression or elation. Unipolar disorder, also termed majc depressive disorder, describes the occurrence c depression alone without episodes of elevate mood. Little is understood about the underlyim, causes of these common and severe illnesse which have estimated lifetime… (More)
A 1.3Mb chromosome 11-specific yeast artificial chromosome (YAC) that spans a t(1;11) translocation breakpoint associated with major psychosis has been used to enrich cDNAs that are encoded within it and expressed in the human foetal brain. Database analysis of the selected fragments led to the identification of 54 clones matching alpha-tubulin, 4 fragments… (More)
Forty-nine clones derived by microdissection of a schizophrenia-associated t(1;11)(q42.1;q14.3) breakpoint region have been assigned by somatic cell hybrid mapping to seven discrete intervals on the long arm of human chromosome 11. Eleven of the clones were shown to map to a small region immediately distal to the translocation breakpoint on 11q. A 3-Mb… (More)
Association of breast tumor susceptibility gene products BRCA1 and BRCA2 with the RAD51 recombination protein suggested that cancer could arise through defects in recombination. The identification of NBS1, responsible for Nijmegen breakage syndrome, from the MRE11/RAD50 recombination protein complex also supports this hypothesis. However, our mutation… (More)
A simple and efficient method to generate hapten-labeled DNA fragments from a trace amount of YAC DNA isolated by PFGE is described. After agarase digestion of the gel slice containing the resolved YAC recombinant, the purified DNA is digested with Sau3Al and a compatible CL oligonucleotide duplex ligated on. A probe is generated by PCR amplification using… (More)
Using human and bovine short cDNA sequences as probes we screened human cosmid and P1 libraries for components of the complex I multi-subunit enzyme of oxidative phosphorylation. We isolated genomic recombinants encoding cI-B8 (gene NDUFA2), cI-B14 (gene NDUFA6), cI-B14.5a (gene NDUFA7), cI-ASHI (gene NDUFB8) and cI-23kD (gene NDUFS8). Genomic versions of… (More)
The human alpha-synuclein gene (SNCA) was previously identified as the non-A beta component of Alzheimer's disease amyloid precursor (NACP). A cosmid clone containing this gene has been isolated and mapped by FISH and high-resolution fluorescence banding to human chromosome 4q21.3-->q22.
The MYCN proto-oncogene was previously mapped to human chromosome 2p24.1 by analysis of mouse x human somatic cell hybrids and radioactive in situ hybridisation to normal human chromosomes. However, using fluorescence in situ hybridisation (FISH) and high resolution chromosome banding techniques MYCN has been reassigned to 2p24.3.
A balanced t(1;11)(q42.1;q14.3) translocation segregates with schizophrenia and related mental illness in a single large Scottish pedigree. We have constructed a long-range restriction map covering at least 3 Mb of the chromosome 11 breakpoint region and conducted searches for genes whose expression could be altered by the translocation, resulting in… (More)