Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33

被引:0
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作者
C. M. Pusch
B. Meyer
S. Kupka
R. J. Smith
A. K. Lalwani
H.-P. Zenner
N. Blin
P. Nürnberg
M. Pfister
机构
[1] University of Tübingen,Institute of Anthropology and Human Genetics, Division of Molecular Genetics
[2] Max Delbrueck Center for Molecular Medicine,Gene Mapping Center
[3] University Hospital Tübingen,Department of Otolaryngology
[4] University of Iowa,Department of Otolaryngology, Molecular Otolaryngology Research Labs
[5] NYU School of Medicine,Department of Otolaryngology
[6] Humboldt University,Institute of Medical Genetics, Charité
来源
Journal of Molecular Medicine | 2004年 / 82卷
关键词
Audiogram; Autosomal dominant mode of inheritance; Candidate gene; Deafness; DFNA4; Hearing impairment;
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摘要
Many forms of autosomal dominant non-syndromic hearing impairment are known. While the underlying gene defects and causative mutations have been discovered for some forms, the gene responsible for DFNA4 has remained elusive to date. Examination of a German four-generation kindred led to the identification of a 1.44 Mb map segment in contig NT_011109 as being the most likely DFNA4 candidate region in 19q13.33. The recombination breakpoints in this family and the intervals of two previously reported DFNA4 families allowed us to delineate a minimum consensus region between the markers D19S879 and D19S246. In our family, a maximum two-point LOD score of 4.5 was obtained at theta =0 for the marker D19S867. Within the refined DFNA4 interval the public databases list more than 50 genes, from which several appear to be promising DFNA4 candidates due to similarities with animal models and with other causative genes involved in hearing disability.
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页码:398 / 402
页数:4
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