摘要
目的探讨学语前非综合征型耳聋患儿miR-96基因突变频率及突变方式。方法分别采集湖北地区125例非综合征型语前聋患儿及听力正常对照组100例的血样,应用PCR技术扩增miR-96基因的全序列,PCR产物进行直接测序,经Chromas软件进行测序结果分析。结果 125例患儿及正常对照组均没发现miR-96基因突变。结论 miR-96基因可能不是导致湖北地区非综合征型学语前聋发生的常见原因。
Objective： The study was to explore the relationship between miR-96 gene mutations and prelingual nonsyndromic hearing impairment（NSHI）.Methods： Blood samples were obtained from 125 patients with prelingual NSHI and 100 normal controls living in Hubei Province of China.Genomic DNA was extracted from the whole blood.PCR and direct sequencing were used to analyze the whole sequence of miR-96 gene.Results： No mutation in miR-96 gene was detected in 125 prelingual NSHI patients and normal controls.Conclusion： miR-96 mutation could not be the common cause of prelingual NSHI in Hubei Province.
出处
《中国优生与遗传杂志》
2013年第5期18-19,共2页
Chinese Journal of Birth Health & Heredity
基金
教育部中央高校基本科研业务费专项资金资助项目(0109510019)
关键词
语前聋
突变
miR-96基因
Prelingual hearing impairment
Mutations
miR-96
