论文部分内容阅读
耳聋具有高度的遗传异质性,迄今已定位了51个常染色体显性遗传非综合征型耳聋(autosomaldominantnon-syndromicsensorineuralhearingloss,DFNA)基因位点,20个DFNA相关基因被克隆。文章收集了一个DFNA巨大家系,家系中有血缘关系的家族成员共170人,对73名家族成员进行了详细的病史调查、全身检查和耳科学检查,提示39人有不同程度的迟发性感音神经性听力下降,未见前庭及其他系统的异常。应用ABI公司382个常染色体微卫星多态标记进行全基因组扫描连锁分析,将该家系致聋基因定位于14q12-13处D14S1021-D14S70之间约7.6cM(3.18Mb)的区域,最大LOD值为6.69(D14S1040),与已知DFNA9位点有4.7cM(2.57Mb)的重叠区,DFNA9致病基因COCH位于重叠区域内。下一步拟进行COCH基因的突变筛查,以揭示该家系耳聋的分子致病机制。
Deafness has a high degree of genetic heterogeneity. So far, 51 autosomal dominant non-syndromic hearing loss (DFNA) loci have been mapped and 20 DFNA related genes have been cloned. The article collected a large DFNA pedigree, family members of a family of 170 people in total, 73 family members conducted a detailed history survey, general examination and ear science, suggesting that 39 people have varying degrees of delayed onset of sound Neurological hearing loss, no abnormal vestibular and other systems. Whole genome scanning linkage analysis was performed using 382 autosomal microsatellite polymorphism markers from ABI Company. The deafness gene of this family was located in the region of 7.6 cM (3.18 Mb) between D14S1021-D14S70 at 14q12-13. The maximum LOD value was 6.69 (D14S1040) overlapped with 4.7 cM (2.57 Mb) of the known DFNA9 locus, and the COCH of the DFNA9 causative gene was located in the overlapping region. The next step to be COCH gene mutation screening to reveal the family of deafness molecular pathogenesis.