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- Title
Re-assigning the DFNB33 locus to chromosome 10p11.23–q21.1.
- Authors
Belguith, Hanen; Masmoudi, Saber; Medlej-Hashim, Myrna; Chouery, Eliane; Weil, Dominique; Ayadi, Hammadi; Petit, Christine; Mégarbané, André
- Abstract
Homozygosity mapping is a powerful resource for mapping and identifying loci and genes responsible for autosomal recessive disorders. Nevertheless, it could result in the identification of several homozygous regions unrelated to the disease locus or non-informative regions. Previously, a genome-wide screen in a large consanguineous Jordanian family allowed us to assign the DFNB33 locus to chromosome 9q34.3. Sequencing of 23 candidate genes showed 11 SNPs in a heterozygous state in affected individuals. These results ruled out the candidate region on chromosome 9. Using additional markers, we were able to restrict the disease locus to an approximately 14 cM region at chromosome 10, located between markers D10S193 and D10S1784. A maximum LOD score of 3.99 was obtained with two markers, D10S199 and D10S220. The screening of two candidate genes, CX40.1 and FXYD4, failed to reveal any disease-causing mutations.European Journal of Human Genetics (2009) 17, 122–124; doi:10.1038/ejhg.2008.155; published online 10 September 2008
- Subjects
GENETICS; CELL nuclei; CHROMOSOMES; ORGANELLES; HUMAN genetics
- Publication
European Journal of Human Genetics, 2009, Vol 17, Issue 1, p122
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/ejhg.2008.155