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Genetic linkage mapping for a susceptibility locus to bipolar illness: chromosomes 2, 3, 4, 7, 9, 10p, 11p, 22, and Xpter.
Am J Med Genet. 1994 Sep 15; 54(3):206-18.AJ

Abstract

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.

Authors+Show Affiliations

Clinical Neurogenetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland 20892.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

7810578

Citation

Detera-Wadleigh, S D., et al. "Genetic Linkage Mapping for a Susceptibility Locus to Bipolar Illness: Chromosomes 2, 3, 4, 7, 9, 10p, 11p, 22, and Xpter." American Journal of Medical Genetics, vol. 54, no. 3, 1994, pp. 206-18.
Detera-Wadleigh SD, Hsieh WT, Berrettini WH, et al. Genetic linkage mapping for a susceptibility locus to bipolar illness: chromosomes 2, 3, 4, 7, 9, 10p, 11p, 22, and Xpter. Am J Med Genet. 1994;54(3):206-18.
Detera-Wadleigh, S. D., Hsieh, W. T., Berrettini, W. H., Goldin, L. R., Rollins, D. Y., Muniec, D., Grewal, R., Guroff, J. J., Turner, G., & Coffman, D. (1994). Genetic linkage mapping for a susceptibility locus to bipolar illness: chromosomes 2, 3, 4, 7, 9, 10p, 11p, 22, and Xpter. American Journal of Medical Genetics, 54(3), 206-18.
Detera-Wadleigh SD, et al. Genetic Linkage Mapping for a Susceptibility Locus to Bipolar Illness: Chromosomes 2, 3, 4, 7, 9, 10p, 11p, 22, and Xpter. Am J Med Genet. 1994 Sep 15;54(3):206-18. PubMed PMID: 7810578.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic linkage mapping for a susceptibility locus to bipolar illness: chromosomes 2, 3, 4, 7, 9, 10p, 11p, 22, and Xpter. A1 - Detera-Wadleigh,S D, AU - Hsieh,W T, AU - Berrettini,W H, AU - Goldin,L R, AU - Rollins,D Y, AU - Muniec,D, AU - Grewal,R, AU - Guroff,J J, AU - Turner,G, AU - Coffman,D, PY - 1994/9/15/pubmed PY - 1994/9/15/medline PY - 1994/9/15/entrez SP - 206 EP - 18 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 54 IS - 3 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7810578/Genetic_linkage_mapping_for_a_susceptibility_locus_to_bipolar_illness:_chromosomes_2_3_4_7_9_10p_11p_22_and_Xpter_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&amp;sid=nlm:pubmed&amp;issn=0148-7299&amp;date=1994&amp;volume=54&amp;issue=3&amp;spage=206 DB - PRIME DP - Unbound Medicine ER -