中文摘要：

目的应用连锁分析方法对一个常染色体显性遗传非综合征型耳聋（DFNA）家系进行耳聋基因的定位研究。方法通过进行家系调查、对家系成员进行全面查体及听力学检查，绘制遗传图谱。应用连锁分析的方法，首先排除此家系的遗传位点与表型相似的已知DFNA位点连锁，然后进行全基因组扫描。结果该家系致聋基因定位在2号染色体2q13-q14．2上，最大LOD值在D2S363处，为3．22。通过单倍型分析将遗传位点定位于微卫星标记D2S1888和D2S2224之间约8．4cM的区域。对区域内的候选基因PAX8进行突变筛查，没有发现突变。结论本家系的耳聋基因定位在一个新的DFNA位点上。

英文摘要：

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 （θ=0. 00） was obtained with the micmsatellite 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/intmn 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.