应用DNA pooling技术对一例母系遗传非综合征耳聋大家系进行全基因组扫描  

Screening the Whole Genome of an Extensive Matrilineal Nonsyndromic Sensorineural Deafness Family by Using DNA Pooling

作　　者：刘宁生[1] 严明[1] 单祥年[1] 武景阳[1] 杨焕明[2] 刘万清[3] 贺林[3] 

机构地区：[1]南京铁道医学院生物学教研室,江苏南京210009 [2]中国科学院遗传所人类基因组研究中心,北京100101 [3]中国科学院上海生理研究所,上海200031

出　　处：《南京铁道医学院学报》2000年第2期75-78,共4页Journal of Nanjing Railway Medical College

基　　金：国家自然科学基金(39770402)

摘　　要：目的 :从分子遗传学角度对 1个非综合征母系遗传耳聋大家系的发病机制进行研究。方法 :使用 3 65对常染色体全基因组扫描标记 (STRPs) ,应用DNApooling方法对该家系进行全基因组扫描。结果 :通过比较患者pool与患者亲属pool及对照pool的等位基因频率的差别 ,发现全基因组共 45个位点患者pool中出现某一较高频率的等位基因 ,并通过统计学处理确定其差异 ,这些位点即为连锁分析的候选位点。结论Objective To investigate molecular genetic mechanism of matrilineal nonsyndromic sensorineural deafness.An analysis of an extensive matrilineal nonsyndromic sensorineural deafness family was performed.Methods A whole genome?wide screen using a combination of homozygosity?mapping and DNA?pooling strategies was performed in one patient pool,one unaffected relative pool and one normal control pool.Results Forty?five patient pool homozygosity loci were found by analysis of 365 short random repeat markers.Conclusion These loci are the candidate positions for maternal inheritance nonsyndromic deafness.

关 键 词：非综合征耳聋 母系遗传 线粒体突变 全基因组扫描 连锁分析 

分 类 号：R764.430.2[医药卫生—耳鼻咽喉科]