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Titolo:
Candidate gene analysis in Rett syndrome and the identification of 21 SNPsin Xq
Autore:
Amir, R; Dahle, EJR; Toriolo, D; Zoghbi, HY;
Indirizzi:
Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Baylor Coll Med Houston TX USA 77030 , Dept Pediat, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor CollMed Houston TX USA 77030 & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Howard Hughes Med Inst, Houston, TX 77030 USA Baylor CollMed Houston TX USA 77030 ghes Med Inst, Houston, TX 77030 USA CNR, Ist Genet Biochem & Evolut, Natl Res Council, I-27100 Pavia, Italy CNR Pavia Italy I-27100 & Evolut, Natl Res Council, I-27100 Pavia, Italy
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 1, volume: 90, anno: 2000,
pagine: 69 - 71
SICI:
0148-7299(20000103)90:1<69:CGAIRS>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
INHERITANCE; RECEPTOR; FAMILY;
Keywords:
Rett syndrome; single-nucleotide polymorphisms; mutation analysis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
12
Recensione:
Indirizzi per estratti:
Indirizzo: Zoghbi, HY Baylor Coll Med, Dept Pediat, 1 Baylor Plaza, Houston, TX 77030USA Baylor Coll Med 1 Baylor Plaza Houston TX USA 77030 X 77030 USA
Citazione:
R. Amir et al., "Candidate gene analysis in Rett syndrome and the identification of 21 SNPsin Xq", AM J MED G, 90(1), 2000, pp. 69-71

Abstract

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that affects females, Exclusion mapping studies using a new family with maternal inheritance of RTT defined Xq28 as the candidate region for the RTT gene. Six candidate genes were selected for mutation analysis based on their established expression patterns and known functions in the CNS, These are: Glutamate receptor subunit 3 (GLUR3), GABA receptor subunit alpha 3 (GABRA3), GABA receptor subunit e1 (GABRE1), Vacuolar ATPase subunit 1 (VATPS1, XAP3), the human homologue of plexin 3-SEX (XAP6) and the Synaptobrevin-like protein (SYBL1), Major rearrangements involving these genes were excluded bySouthern analysis, No disease-causing mutations were found, but several single-nucleotide polymorphisms (SNPs) were detected. These SNPs will be useful in future linkage analysis and whole-genome association studies for other diseases, The genomic characterization of GLUR3 and GABRA3 will allow mutational analysis of these genes as candidates for other X-linked neurological disorders mapping to Xq25-Xq26 and Xq28, Am. J. Med, Genet, 90:69-71, 2000, (C) 2000 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/01/20 alle ore 12:30:17