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Titolo:
Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families
Autore:
Alarcon, M; Cantor, RM; Liu, JJ; Gilliam, TC; Geschwind, DH;
Indirizzi:
Univ Calif Los Angeles, Dept Neurol, Reed Neurol Res Ctr, Sch Med, Los Angeles, CA 90095 USA Univ Calif Los Angeles Los Angeles CA USA 90095 Los Angeles, CA 90095 USA Univ Calif Los Angeles, Sch Med, Ctr Neurobehav Genet, Los Angeles, CA 90095 USA Univ Calif Los Angeles Los Angeles CA USA 90095 Los Angeles, CA 90095 USA Univ Calif Los Angeles, Sch Med, Neuropsychiat Res Inst, Los Angeles, CA 90095 USA Univ Calif Los Angeles Los Angeles CA USA 90095 Los Angeles, CA 90095 USA Univ Calif Los Angeles, Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA Univ Calif Los Angeles Los Angeles CA USA 90095 Los Angeles, CA 90095 USA Univ Calif Los Angeles, Sch Med, Dept Pediat, Los Angeles, CA 90095 USA Univ Calif Los Angeles Los Angeles CA USA 90095 Los Angeles, CA 90095 USA Columbia Univ, Columbia Genome Ctr, New York, NY USA Columbia Univ New York NY USA niv, Columbia Genome Ctr, New York, NY USA Columbia Univ, Dept Psychiat, New York, NY USA Columbia Univ New York NY USA mbia Univ, Dept Psychiat, New York, NY USA Columbia Univ, Dept Genet & Dev, New York, NY USA Columbia Univ New York NY USA a Univ, Dept Genet & Dev, New York, NY USA
Titolo Testata:
AMERICAN JOURNAL OF HUMAN GENETICS
fascicolo: 1, volume: 70, anno: 2002,
pagine: 60 - 71
SICI:
0002-9297(200201)70:1<60:EFALQT>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
SUSCEPTIBILITY GENES; LINKAGE ANALYSIS; GENOMIC SCREEN; DISORDER; INDIVIDUALS; HISTORY; PARENTS; LOCALIZATION; PHENOTYPE; GENETICS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
43
Recensione:
Indirizzi per estratti:
Indirizzo: Geschwind, DH Univ Calif Los Angeles, Dept Neurol, Reed Neurol Res Ctr, Sch Med, 710 Westwood Plaza,1-145, Los Angeles, CA 90095 USA Univ Calif Los Angeles 710 Westwood Plaza,1-145 Los Angeles CA USA 90095
Citazione:
M. Alarcon et al., "Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families", AM J HU GEN, 70(1), 2002, pp. 60-71

Abstract

Autism is a syndrome characterized by deficits in language and social skills and by repetitive behaviors. We hypothesized that potential quantitativetrait loci (QTLs) related to component autism endophenotypes might underlie putative or significant regions of autism linkage. We performed nonparametric multipoint linkage analyses, in 152 families from the Autism Genetic Resource Exchange, focusing on three traits derived from the Autism Diagnostic Interview: "age at first word," "age at first phrase," and a composite measure of "repetitive and stereotyped behavior. " Families were genotyped for 335 markers, and multipoint sib pair linkage analyses were conducted. Using nonparametric multipoint linkage analysis, we found the strongest QTL evidence for age at first word on chromosome 7q (nonparametric test statistic[Z] 2.98; P = .001), and subsequent linkage analyses of additional markersand association analyses in the same region supported the initial result (Z = 2.85 P = .002 chi (2) = 18.84, df 8, P = .016). Moreover, the peak fine- mapping result for repetitive behavior (Z = 2.48; P = .007) localized to a region overlapping this language QTL. The putative autism-susceptibility locus on chromosome 7 may be the result of separate QTLs for the language and repetitive or stereotyped behavior deficits that are associated with thedisorder.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/04/20 alle ore 04:00:53