Studies in a consanguineous family reveal a novel locus for stuttering on chromosome 16q

Studies in a consanguineous family reveal a novel locus for stuttering on chromosome 16q

Stuttering is a common neurologic disorder in children that can persist into adulthood. Although stuttering displays high heritability, Mendelian segregation typically does not occur, and linkage studies have produced limited success. A genome-wide single nucleotide polymorphism (SNP) linkage scan i...

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Veröffentlicht in:Human genetics 2012-02, Vol.131 (2), p.311-313
Hauptverfasser: Raza, Muhammad Hashim, Amjad, Rana, Riazuddin, Sheikh, Drayna, Dennis
Format: Artikel
Sprache:eng
Schlagworte:
Biomedical and Life Sciences
Biomedicine
Chromosomes
Chromosomes, Human, Pair 16
Consanguinity
Female
Gene Function
Genetic Linkage
Genomes
Haplotypes
Human Genetics
Humans
Male
Metabolic Diseases
Molecular biology
Molecular Medicine
Pedigree
Short Report
Stuttering
Stuttering - genetics
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Beschreibung
Zusammenfassung:Stuttering is a common neurologic disorder in children that can persist into adulthood. Although stuttering displays high heritability, Mendelian segregation typically does not occur, and linkage studies have produced limited success. A genome-wide single nucleotide polymorphism (SNP) linkage scan in a consanguineous Pakistani family followed by targeting genotyping using microsatellite markers revealed linkage on chromosome 16q. The highest linkage scores were obtained under a modified recessive model of inheritance, with a maximum multipoint LOD score of 4.42 at marker D16S3043.
ISSN:0340-6717
1432-1203
DOI:10.1007/s00439-011-1134-2