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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 :这些位点频率较高的等位基因可能与导致母系遗传性耳聋的相关基因连锁
Objective: To study the pathogenesis of a non-syndromic maternal genetic deafness pedigree from the perspective of molecular genetics. Methods: Thirty-five pairs of autosomal genome-wide scanning (STRPs) markers were used to perform genome-wide DNA scanning on this pedigree. Results: By comparing the frequency of allele between patient pool and control pool, we found that a total of 45 loci in the total genome showed a higher frequency of alleles and determined by statistical analysis Differences, these sites are the candidate sites for linkage analysis. Conclusion: The alleles with higher frequency of these loci may be linked with the related genes leading to maternal hereditary deafness