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.

author: Monaco, Anthony P., Fisher, Simon E., Maestrini, Elena, Weeks, Daniel E., Marlow, Angela J., Lamb, Janine, Williams, Dianne F., Richardson, Alex, J., Stein, John F.
Dyslexia, Articulation disorders

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PedCheck: a program for identification of genotype incompatibilities in linkage analysis

Article Abstract:

PedCheck is a new computer program which has four error-checking algorithms to assist in identification of all Mendelian inconsistencies in pedigree data. Before linkage analysis, Mendelian inconsistencies in pedigree data must be gotten rid of. It is intended to give useful and detailed diagnostic information to help resolve errors. The program will handle large data sets quickly and efficiently and accept various input formats. Error-checking algorithms are designed to match subtlety of pedigree errors.

author: Weeks, Daniel E., O'Connell, Jeffrey R.
United Kingdom, Methods, Analysis, Software, Biological models, Genetics, Linkage (Genetics)

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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.

author: Chang, Chia-Che, Bould, Stephen J.
Statistical Data Included, Phenotype, Phenotypes, Life, Origin, Origin of life, Peroxisomes, Lethal mutation

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subjects list: United States, Usage, Genetic aspects, Chromosome mapping, Genetic disorders, Research, Genotype, Genotypes
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