دورية أكاديمية

Fine mapping of a schizophrenia susceptibility locus at chromosome 6q23: increased evidence for linkage and reduced linkage interval.

التفاصيل البيبلوغرافية
العنوان: Fine mapping of a schizophrenia susceptibility locus at chromosome 6q23: increased evidence for linkage and reduced linkage interval.
المؤلفون: Levi A; Biological Psychiatry Laboratory, Department of Psychiatry, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Kohn Y, Kanyas K, Amann D, Pae CU, Hamdan A, Segman RH, Avidan N, Karni O, Korner M, Jun TY, Beckmann JS, Macciardi F, Lerer B
المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2005 Jun; Vol. 13 (6), pp. 763-71.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Print ISSN: 1018-4813 (Print) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
أسماء مطبوعة: Publication: <2003->: London : Nature Publishing Group
Original Publication: Basel ; New York : Karger, [1992-
مواضيع طبية MeSH: Chromosomes, Human, Pair 6* , Genetic Linkage* , Genetic Predisposition to Disease*, Schizophrenia/*genetics, Arabs/genetics ; Chromosome Mapping ; Humans ; Israel ; Microsatellite Repeats
مستخلص: We previously reported an autosomal scan for schizophrenia susceptibility loci in a systematically recruited sample of Arab Israeli families. The scan detected significant evidence for linkage at chromosome 6q23 with a nonparametric LOD score (NPL) of 4.60 (P=0.000004) and a multipoint parametric LOD score of 4.16. In order to refine this finding we typed 42 additional microsatellite markers on chromosome 6q between D6S1570 (99.01 cM from the pter) and D6S281 (190.14 from the pter) in the same sample (average intermarker distance approximately 1.7 cM). In the 23 cM region between D6S1715 and D6S311, markers were more closely spaced ( approximately 1.1 cM). Multipoint nonparametric and parametric and single point linkage analyses were performed. The peak NPL rose to 4.98 (P=0.00000058) at D6S1626 (136.97 cM), immediately adjacent to D6S292 (NPL 4.98, P=0.00000068), the marker that gave the highest NPL in the original genome scan, under the broad diagnostic category. The putative susceptibility region (NPL-1) was reduced from 12.0 to 4.96 cM. The peak multipoint parametric LOD score was 4.63 at D6S1626 under a dominant genetic model, core diagnostic category and the LOD-1 interval was 2.10 cM. The maximum single point LOD score (3.55, theta=0.01) was also at D6S1626 (dominant model, core diagnostic category). Increased evidence for linkage in the same sample as in the original genome scan and consistent localization of the linkage peak add further support for the presence of a schizophrenia susceptibility locus at chromosome 6q23. Moreover, the markedly reduced linkage interval greatly improves prospects for identifying a schizophrenia susceptibility gene within the implicated region.
تواريخ الأحداث: Date Created: 20050407 Date Completed: 20050818 Latest Revision: 20101118
رمز التحديث: 20240628
DOI: 10.1038/sj.ejhg.5201406
PMID: 15812564
قاعدة البيانات: MEDLINE
الوصف
تدمد:1018-4813
DOI:10.1038/sj.ejhg.5201406