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  Highly significant linkage to the SLI1 Locus in an expanded sample of Individuals affected by specific language impairment

Newbury, D. F., Cleak, J. D., Banfield, E., Marlow, A. J., Fisher, S. E., Monaco, A. P., et al. (2004). Highly significant linkage to the SLI1 Locus in an expanded sample of Individuals affected by specific language impairment. American Journal of Human Genetics, 74(6), 1225-1238. doi:10.1086/421529.

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SLIC Consortium_Higly significant_linkage_Am_J_Hum_Genet_2004.pdf (Verlagsversion), 742KB
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Newbury, D. F., Autor
Cleak, J. D., Autor
Banfield, E., Autor
Marlow, A. J., Autor
Fisher, Simon E.1, Autor           
Monaco, A. P., Autor
Stott, C. M., Autor
Merricks, M. J., Autor
Goodyer, I. M., Autor
Slonims, V., Autor
Baird, G., Autor
Bolton, P.F., Autor
Everitt, A., Autor
Hennessy, E., Autor
Main, M., Autor
Helms, P., Autor
Kindley, A. D., Autor
Hodson, A., Autor
Watson, J., Autor
O’Hare, A., Autor
Cohen, W., AutorCowie, H., AutorSteel, J., AutorMacLean, A., AutorSeckl, J., AutorBishop, D. V. M., AutorSimkin, Z., AutorConti-Ramsden, G., AutorPickles, A., Autor mehr..
Affiliations:
1The Wellcome Trust Centre for Human Genetics, Oxford, ou_persistent22              

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 Zusammenfassung: Specific language impairment (SLI) is defined as an unexplained failure to acquire normal language skills despite adequate intelligence and opportunity. We have reported elsewhere a full-genome scan in 98 nuclear families affected by this disorder, with the use of three quantitative traits of language ability (the expressive and receptive tests of the Clinical Evaluation of Language Fundamentals and a test of nonsense word repetition). This screen implicated two quantitative trait loci, one on chromosome 16q (SLI1) and a second on chromosome 19q (SLI2). However, a second independent genome screen performed by another group, with the use of parametric linkage analyses in extended pedigrees, found little evidence for the involvement of either of these regions in SLI. To investigate these loci further, we have collected a second sample, consisting of 86 families (367 individuals, 174 independent sib pairs), all with probands whose language skills are ⩾1.5 SD below the mean for their age. Haseman-Elston linkage analysis resulted in a maximum LOD score (MLS) of 2.84 on chromosome 16 and an MLS of 2.31 on chromosome 19, both of which represent significant linkage at the 2% level. Amalgamation of the wave 2 sample with the cohort used for the genome screen generated a total of 184 families (840 individuals, 393 independent sib pairs). Analysis of linkage within this pooled group strengthened the evidence for linkage at SLI1 and yielded a highly significant LOD score (MLS = 7.46, interval empirical P<.0004). Furthermore, linkage at the same locus was also demonstrated to three reading-related measures (basic reading [MLS = 1.49], spelling [MLS = 2.67], and reading comprehension [MLS = 1.99] subtests of the Wechsler Objectives Reading Dimensions).

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 Datum: 2004-05-032004-06
 Publikationsstatus: Erschienen
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Titel: American Journal of Human Genetics
Genre der Quelle: Zeitschrift
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Ort, Verlag, Ausgabe: The American Society of Human Genetics
Seiten: - Band / Heft: 74 (6) Artikelnummer: - Start- / Endseite: 1225 - 1238 Identifikator: Anderer: Am J Hum Genet
Anderer: AJHG
ISSN: 0002-9297
ISSN: 1537-6605