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Genomewide significant linkage to stuttering on chromosome 12
Naveeda Riaz1, Stacy Steinberg, Jamil Ahmad
1National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA.
American Journal of Human Genetics
|February 17, 2005
Summary
Genetic factors contribute to stuttering, a complex communication disorder. This study identified a significant linkage on chromosome 12, suggesting a gene influencing stuttering may be located there.
Area of Science:
- Genetics
- Human Communication Disorders
Background:
- Stuttering is a prevalent communication disorder with an unknown primary cause.
- Evidence suggests a genetic component, but complex inheritance patterns have impeded gene identification.
Purpose of the Study:
- To investigate the genetic underpinnings of stuttering using linkage analysis in highly inbred families.
- To identify specific chromosomal regions associated with stuttering in Pakistani families.
Main Methods:
- Genomewide linkage scan performed on 44 consanguineous Pakistani families with multiple stuttering cases.
- Utilized the Marshfield Weber 9 marker panel and diagnosed stuttering using the Stuttering Severity Instrument.
- Increased resolution on chromosome 12 with additional genotyping, including 16 more individuals from 46 families.
Main Results:
- Initial analysis indicated linkage evidence on chromosomes 1, 5, 7, and 12.
- Further analysis of chromosome 12 in an enlarged dataset provided consistent linkage evidence.
- Nonparametric LOD scores of 4.61 (S(homoz)) and 3.51 (S(all)) were obtained for chromosome 12q.
Conclusions:
- A specific locus on chromosome 12q is strongly suggested to harbor a gene significantly influencing stuttering in this population.
- This finding provides a critical step towards understanding the genetic etiology of stuttering.