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Linkage analysis of Tourette syndrome in a large utah pedigree
American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-03, Vol.153B (2), p.656-662
Knight, Stacey
Coon, Hilary
Johnson, Michael
Leppert, Mark F.
Camp, Nicola J.
McMahon, William M.
2010
Details
Autor(en) / Beteiligte
Knight, Stacey
Coon, Hilary
Johnson, Michael
Leppert, Mark F.
Camp, Nicola J.
McMahon, William M.
Titel
Linkage analysis of Tourette syndrome in a large utah pedigree
Ist Teil von
American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-03, Vol.153B (2), p.656-662
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2010
Link zum Volltext
Quelle
Wiley Online Library All Journals
Beschreibungen/Notizen
Tourette syndrome (TS) is a neuropsychiatric disorder characterized by multiple motor and phonic tics. The heritability of TS has been well established, yet there is a lack of consensus in genome‐wide linkage studies. The purpose of this study was to conduct a genome‐wide linkage analysis on a unique, large, high‐risk TS Utah pedigree. We examined a qualitative trait (TS1) where cases had a definitive diagnosis of TS as observed by a clinical interviewer (n = 66) and a quantitative phenotype based on the total Yale global motor and phonic tic severity scores (n = 102). Both parametric and non‐parametric multipoint linkage analyses based on MCMC methods were performed using a 10 cM spaced micro‐satellite autosomal marker set. Two regions of interest were identified under affecteds‐only recessive models; a LOD score of 3.3 on chromosome 1p for Yale tic severity and a LOD score of 3.1 on chromosome 3p for the TS1 phenotype. Twenty‐seven individuals shared linked segregating haplotypes for the 1p region. They had significantly higher Yale tic phonic scores than non‐sharers (P = 0.01). There were 46 haplotype sharers on chromosome 3p with significantly higher percentage of females among these individuals compared to the non‐sharers (P = 0.03). The significant linkage peaks on chromosomes 1p and 3p are in new areas of the genome for TS, and replication of these findings is necessary. © 2009 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4841
eISSN: 1552-485X
DOI: 10.1002/ajmg.b.31035
Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2923637
Format
–
Schlagworte
Adolescent
,
Adult and adolescent clinical studies
,
Biological and medical sciences
,
Child
,
Child, Preschool
,
Classical genetics, quantitative genetics, hybrids
,
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
,
Family Health
,
Female
,
Fundamental and applied biological sciences. Psychology
,
Genetic Linkage
,
Genetics
,
Genetics of eukaryotes. Biological and molecular evolution
,
Genotype
,
Haplotypes
,
Human
,
Humans
,
Infant
,
linkage analysis
,
Lod Score
,
Male
,
Medical genetics
,
Medical sciences
,
Microsatellite Repeats
,
Neurology
,
Organic mental disorders. Neuropsychology
,
Pedigree
,
Psychology. Psychoanalysis. Psychiatry
,
Psychopathology. Psychiatry
,
Tourette syndrome
,
Tourette Syndrome - genetics
,
Utah
,
Yale Global Tic Severity Scale
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