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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。
Objective To study the localization of deafness gene in an autosomal dominant nonsyndromic hearing loss (DFNA) pedigree using linkage analysis. Methods Through pedigree investigation, family members were investigated comprehensively and audiologically to draw the genetic map. Using linkage analysis, the genetic locus of this pedigree was first excluded from linkage with a known DFNA site of similar phenotype, followed by genome-wide scan. Results The deafness gene was located on chromosome 2q 2q13-q14.2 and the maximum LOD value was 3.22 at D2S363. The haplotype analysis locates the genetic locus in the region of about 8.4 cM between microsatellite markers D2S1888 and D2S2224. Mutational screening of the candidate gene PAX8 in the region showed no mutation. Conclusion Deafness gene of this family locates at a new DFNA site.