A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia
Article Abstract:
Quantitative-trait locus (QTL) methods have been used to evaluate linkage for reading disability, developmental dyslexia, to the 6p25-21.3 region in a sample of 181 sibling pairs from 82 nuclear families selected for having a dyslexic proband. Linkage has been assessed directly for several quantitative measures that should correlate with different components of the phenotype rather than using categorical definitions of subtypes or using one composite measure. Findings show that the QTL affects orthographic and phonological skills and is not specific to phoneme awareness.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
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Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders
Article Abstract:
Peroxisome-biogenesis disorders (PBDs), a set of lethal genetic diseases that are often lethal and that are characterized by defective peroxisomal matrix protein import and mental retardation, and phenotype-genotype relationships in complementation group 3 are discussed. Translation initiation at internal AUG codons seem to modulate disease phenotypes and when unexpectedly mild phenotypes come from severe mutations early in the coding region they should be considered.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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