论文部分内容阅读
目的利用中国遗传性聋家系(Z029家系)进行基因定位研究,为进一步克隆耳聋致病基因奠定基础。方法通过解放军总医院耳鼻咽喉研究所遗传性聋资源收集网络采集到一个六代遗传性聋大家系(173人),应用全基因组的微卫星 DNA 标记进行基因扫描和基因分型,并利用Linkage 等连锁分析软件对基因分型结果进行分析。结果运用全基因组扫描连锁分析,将 Z029家系的耳聋致病基因定位在11号染色体长臂上。有意义地肯定的连锁标记位于 D11S165-D11S1874区域,两点连锁分析的最大似然比(log odds score,LOD)值为5.71(θ=0.05),定位区间为25.34 cM(centimorgan)。结论一个中国非综合征型遗传性聋家系的致病基因座位为进一步克隆新的耳聋基因及探索 Myosin7A 基因对中国耳聋家系的贡献提供了模板。
Objective To study the gene localization using Chinese hereditary deaf pedigree (Z029 pedigree), which lays the foundation for further cloning the gene of deafness. METHODS: A six-generation hereditary deafness pedigree (173 human) was collected from the hereditary deaf resource collection network of the General Hospital of Otolaryngology, People’s Liberation Army General Hospital. Genome-wide microsatellite DNA markers were used for gene scanning and genotyping. Linkage et al Linkage analysis software to analyze the results of genotyping. Results Genome-wide scanning linkage analysis was used to locate the deafness-causing gene of Z029 pedigree on the long arm of chromosome 11. Significantly validated linkage markers were located in the region of D11S165-D11S1874 with a log odds score (LOD) of 5.71 (θ = 0.05) for the two-point linkage analysis and a median interval of 25.34 cM (centimorgan). Conclusion The causative gene locus of a Chinese nonsyndromic hereditary deaf pedigree provided a template for further cloning new deafness genes and exploring the contribution of Myosin7A gene to Chinese deafness pedigrees.