Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1995-2-1
pubmed:abstractText
We are conducting a genome search for a predisposing locus to bipolar (manic-depressive) illness by genotyping 21 moderate-sized pedigrees. We report linkage data derived from screening marker loci on chromosomes 2, 3, 4, 7, 9, 10p, 11p, 22, and the pseudoautosomal region at Xpter. To analyze for linkage, two-point marker to illness lod scores were calculated under a dominant model with either 85% or 50% maximum penetrance and a recessive model with 85% maximum penetrance, and two affection status models. Under the dominant high penetrance model the cumulative lod scores in the pedigree series were less than -2 at theta = 0.01 in 134 of 142 loci examined, indicating that if the disease is genetically homogeneous linkage could be excluded in these marker regions. Similar results were obtained using the other genetic models. Heterogeneity analysis was conducted when indicated, but no evidence for linkage was found. In the course of mapping we found a positive total lod score greater than +3 at the D7S78 locus at theta = 0.01 under a dominant, 50% penetrance model. The lod scores for additional markers within the D7S78 region failed to support the initial finding, implying that this was a spurious positive. Analysis with affected pedigree member method for COL1A2 and D7S78 showed no significance for linkage but for PLANH1, at the weighting functions f(p) = 1 and f(p) = 1/sqrt(p) borderline P values of 0.036 and 0.047 were obtained. We also detected new polymorphisms at the mineralocorticoid receptor (MLR) and calmodulin II (CALMII) genes. These genes were genetically mapped and under affection status model 2 and a dominant, high penetrance mode of transmission the lod scores of < -2 at theta = 0.01 were found.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
54
pubmed:owner
NLM
pubmed:authorsComplete
N
pubmed:pagination
206-18
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:7810578-Bipolar Disorder, pubmed-meshheading:7810578-Blotting, Southern, pubmed-meshheading:7810578-Chromosome Mapping, pubmed-meshheading:7810578-Chromosomes, Human, pubmed-meshheading:7810578-Chromosomes, Human, Pair 10, pubmed-meshheading:7810578-Chromosomes, Human, Pair 11, pubmed-meshheading:7810578-Chromosomes, Human, Pair 2, pubmed-meshheading:7810578-Chromosomes, Human, Pair 22, pubmed-meshheading:7810578-Chromosomes, Human, Pair 3, pubmed-meshheading:7810578-Chromosomes, Human, Pair 4, pubmed-meshheading:7810578-Chromosomes, Human, Pair 7, pubmed-meshheading:7810578-Chromosomes, Human, Pair 9, pubmed-meshheading:7810578-Female, pubmed-meshheading:7810578-Genetic Linkage, pubmed-meshheading:7810578-Genotype, pubmed-meshheading:7810578-Humans, pubmed-meshheading:7810578-Lod Score, pubmed-meshheading:7810578-Male, pubmed-meshheading:7810578-Pedigree, pubmed-meshheading:7810578-Polymerase Chain Reaction, pubmed-meshheading:7810578-X Chromosome
pubmed:year
1994
pubmed:articleTitle
Genetic linkage mapping for a susceptibility locus to bipolar illness: chromosomes 2, 3, 4, 7, 9, 10p, 11p, 22, and Xpter.
pubmed:affiliation
Clinical Neurogenetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland 20892.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't