摘要
目的 探索与母系遗传性非综合征性耳聋相关的核基因。方法 选择常染色体上 36 5个短串联重复序列标记 ,应用DNAPooling方法对一母系遗传性聋家系进行全基因组扫描。分析比较患者基因池与患者亲属基因池、家系配偶池等位基因频率的差异 ,对扫描所得的部分阳性位点进行连锁分析。结果 在全基因组中发现 45个患者基因池某一等位基因频率远高于患者亲属基因池和家系配偶池的位点 ,对其中部分位点的研究未发现紧密连锁证据。结论 本文经全基因组扫描所确定的 45个阳性位点可作为本家系连锁分析的候选位点。
Objective To search responsible nuclear genes for matrilineal non-syndromic deafness. Methods Whole genome-wide scanning was performed to analyze the 365 short tandem repeats in a deaf pedigree with maternal inheritance using DNA pooling strategy. Frequencies of allele in one patient pool were compared with that in one unaffected relative pool as well as in one normal control pool. Linkage analysis was also conducted in some positive loci. Results Allele from 45 loci occurred more frequently in the patient pool than that in the unaffected relative pool and the control pool. No linkage was found from any candidate locus investigated. Conclusion 45 positive loci obtained from this family may be as the candidate positions for matrilineal non-syndromic deafness .
出处
《中华耳鼻咽喉科杂志》
CSCD
2000年第6期413-415,共3页
Chinese Journal of Otorhinolaryngology
基金
国家自然科学基金资助项目(39770402)
