TY - JOUR
T1 - Report from the Maryland epidemiology schizophrenia linkage study
T2 - No evidence for linkage between schizophrenia and a number of candidate and other genomic regions using a complex dominant model
AU - Karayiorgou, M.
AU - Kasch, L.
AU - Lasseter, V. K.
AU - Hwang, J.
AU - Elango, R.
AU - Bernardini, D. J.
AU - Kimberland, M.
AU - Babb, R.
AU - Francomano, C. A.
AU - Wolyniec, P. S.
AU - Lamacz, M.
AU - Nestadt, G.
AU - Meyers, D.
AU - Ott, J.
AU - Childs, B.
AU - Antonarakis, S.
AU - Kazazian, H. H.
AU - Housman, D. E.
AU - Pulver, A. E.
PY - 1994
Y1 - 1994
N2 - Our collaborative group has undertaken a linkage study of schizophrenia, using a systematic sample of patients admitted to Maryland hospitals. An initial sample of 39 families, each having two or more affected, was available for genotyping candidate genes, candidate regions, and highly polymorphic markers randomly distributed throughout the genome. We used a single complex dominant model (with a disease gene frequency of 0.005 and age-dependent penetrance for affected phenotype: for under 35, penetrance = .45; for 35 and older, penetrance = .85). We report here 130 markers, which met the exclusion criteria of LOD score < -2.00 at theta >0.01 in at least 10 informative families, and no evidence for heterogeneity. We also report here markers that were tested as candidates for linkage to the schizophrenic phenotype. They were selected based on the following criteria: a) proximity to reported chromosomal rearrangements (both 5q and 11q), b) suggestions of linkage from other families (5q), or c) presence of a candidate gene (5q, 11q, 3q: Dopamine receptors 1, 2, and 3, respectively). We also tested for mutations of codon 717 in exon 17 of the amyloid precursor protein (APP) gene and were unable to detect the C to T substitution in our schizophrenic group.
AB - Our collaborative group has undertaken a linkage study of schizophrenia, using a systematic sample of patients admitted to Maryland hospitals. An initial sample of 39 families, each having two or more affected, was available for genotyping candidate genes, candidate regions, and highly polymorphic markers randomly distributed throughout the genome. We used a single complex dominant model (with a disease gene frequency of 0.005 and age-dependent penetrance for affected phenotype: for under 35, penetrance = .45; for 35 and older, penetrance = .85). We report here 130 markers, which met the exclusion criteria of LOD score < -2.00 at theta >0.01 in at least 10 informative families, and no evidence for heterogeneity. We also report here markers that were tested as candidates for linkage to the schizophrenic phenotype. They were selected based on the following criteria: a) proximity to reported chromosomal rearrangements (both 5q and 11q), b) suggestions of linkage from other families (5q), or c) presence of a candidate gene (5q, 11q, 3q: Dopamine receptors 1, 2, and 3, respectively). We also tested for mutations of codon 717 in exon 17 of the amyloid precursor protein (APP) gene and were unable to detect the C to T substitution in our schizophrenic group.
KW - candidate genes
KW - exclusion
KW - schizophrenia
KW - systematic sample
UR - http://www.scopus.com/inward/record.url?scp=0028672996&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028672996&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320540413
DO - 10.1002/ajmg.1320540413
M3 - Article
C2 - 7726207
AN - SCOPUS:0028672996
VL - 54
SP - 345
EP - 353
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 4
ER -