Re-assigning the DFNB33 locus to chromosome 10p11.23-q21.1.
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.
Belguith
Hanen
H
Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beyrouth, Liban.
Masmoudi
Saber
S
Medlej-Hashim
Myrna
M
Chouery
Eliane
E
Weil
Dominique
D
Ayadi
Hammadi
H
Petit
Christine
C
Mégarbané
André
A
D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D017630:Connexins / Q000235:genetics; D005190:Family; D008040:Genetic Linkage; D006239:Haplotypes; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008126:Lod Score; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D015221:Potassium Channels / Q000235:genetics; D017422:Sequence Analysis, DNA
D017630:Connexins; C484032:GJD4 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D015221:Potassium Channels
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