Mapping of gene underlying autosomal-dominant non-syndrome deafness / 解放军医学杂志

ABSTRACT

Objective To localize the gene of a Chinese autosomal-dominant non-syndrome deafness (DFNA) family by linkage analysis. Methods Pedigree was drawn after genetic investigation. All family members were checked up, and detail audiology examination proceeded (including pure tone audiometer, acoustic immittance measurement, auditory brainstem response). Vestibular function was evaluated. At first, the similarity of the family's locus linkage with the known DFNA loci should be excluded, and then whole genome scan was carried out. Results Deafness gene of this family was localized at 2q13-q14.2. A maximum LOD score of 3.22 (?=0.00) was obtained with the microsatellite marker D2S363. Haplotype analysis placed the novel locus within a 8.4cM region interval defined by markers D2S1888 and 2S2224. DNA sequencing of coding regions and exon/intron boundaries of a candidate gene PAX8 in this interval did not reveal disease-causing mutation in this family. Conclusion A novel DFNA locus was defined in a Chinese Neimeng family.