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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Sherrington, R. Curtis, D. Brynjolfson, J. Read, T. Petursson, H. Gurling, H. M. Mankoo, B. S. Sigmundsson, T. Murphy, P. Blaveri, E. Kalsi, G. McQuillin, A. |
| Description | Country affiliation: United kingdom Author Affiliation: Gurling HM ( Molecular Psychiatry Laboratory, Department of Psychiatry and Behavioural Sciences, Windeyer Institute for Medical Sciences, Royal Free and University College London Medical School, London, W1T 4JF, United Kingdom. h.gurling@ucl.ac.uk) |
| Abstract | We have performed genetic linkage analysis in 13 large multiply affected families, to test the hypothesis that there is extensive heterogeneity of linkage for genetic subtypes of schizophrenia. Our strategy consisted of selecting 13 kindreds containing multiple affected cases in three or more generations, an absence of bipolar affective disorder, and a single progenitor source of schizophrenia with unilineal transmission into the branch of the kindred sampled. DNA samples from these families were genotyped with 365 microsatellite markers spaced at approximately 10-cM intervals across the whole genome. We observed LOD scores >3.0 at five distinct loci, either in the sample as a whole or within single families, strongly suggesting etiological heterogeneity. Heterogeneity LOD scores >3.0 in the sample as a whole were found at 1q33.2 (LOD score 3.2; P=.0003), 5q33.2 (LOD score 3.6; P=.0001), 8p22.1-22 (LOD score 3.6; P=.0001), and 11q21 (LOD score 3.1; P=.0004). LOD scores >3.0 within single pedigrees were found at 4q13-31 (LOD score 3.2; P=.0003) and at 11q23.3-24 (LOD score 3.2; P=.0003). A LOD score of 2.9 was also found at 20q12.1-11.23 within in a single family. The fact that other studies have also detected LOD scores >3.0 at 1q33.2, 5q33.2, 8p21-22 and 11q21 suggests that these regions do indeed harbor schizophrenia-susceptibility loci. We believe that the weight of evidence for linkage to the chromosome 1q22, 5q33.2, and 8p21-22 loci is now sufficient to justify intensive investigation of these regions by methods based on linkage disequilibrium. Such studies will soon allow the identification of mutations having a direct effect on susceptibility to schizophrenia. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 3 |
| Volume Number | 68 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 2001-03-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 20 Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 8 Genetic Predisposition To Disease Genetics Genome, Human Schizophrenia Chromosome Aberrations Chromosome Mapping Genetic Linkage Genetic Markers Genotype Lod Score Microsatellite Repeats Pedigree Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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