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Medicine Sciences and Healthcare Journal (MSHJ), Volume 2, Sep 2017

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Geographically isolated populations have been successfully used to localize genes for recessive inherited diseases, including non-syndromic sensorineural recessive hearing loss (NSRHL). To date, 67 loci for NSRHL have been localized on human chromosomes (DFNB loci), and 22 of the corresponding genes have been identified; eight of those loci were first mapped in Palestinian families. We mapped recessive, severe to profound, prelingual NSHL in a four-generation consanguineous Palestinian Family K. The maximum LOD score was 4.19 at the 6.1MB interval on chromosome 22q13 bounded by recombinants in D22S1045 and D22S282. The DFNB28 region is distal to MYH9 and to the region deleted in Velo-cardio-facial Syndrome. Other Palestinian families were found to be linked to the same region, suing homozygosity mapping across all linked families, the causative gene was finally cloned. Deaf mouse mutants in conjunction with linkage analysis of families with deafness have been instrumental in the identification of human genes. Nevertheless, a great number of human deafness loci do not have a corresponding ?mouse model?; and on the other hand there are a large number of deaf mouse mutants with no human homologue. Part of the deficit we hope to complete using mouse models generated form the ENU mutagenesis program. In our lab, we have cloned a number of those ENU mutants including Doarad, Beethoven, headturner, and recently Headchuk which is the second ENU mutant mouse in our lab that has a mutation in Jagged1. More work is now being done on other ENU mutants in the lab, to determine their causative genes and to characterize their ear phenotypes.

Author(s): Shahin H., Walsh T., King M-C., Kanaan M.
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