29个近亲结婚致聋核心家系GJB2、SLC26A4和线粒体DNA12SrRNA基因分析
Genetic Analysis of GJB2 Gene,SLC26A4 and Mitochondrial DNA 12SrRNA in Twenty-Nine Deafness Probands in the Consanguineous Marriage Pedigrees
鲍晓林;郭玉芬;王秋菊;刘晓雯;韩明鲲;赵翠;赵亚丽;王大勇;兰兰;韩东一;
1:兰州大学第二医院耳鼻咽喉-头颈外科
2:兰州大学第二医院耳鼻咽喉-头颈外科
3:解放军总医院耳鼻咽喉-头颈外科、解放军耳鼻咽喉科研究所
4:兰州大学第二医院耳鼻咽喉-头颈外科
摘要关键词基金项目(Foundation):作者参考文献1郭玉芬,关静,徐百成,等.甘肃省盲聋哑学校283名聋哑学生的病因分析[J].中华耳科学杂,2006,4:30.
2王秋菊,韩东一,郭玉芬,等.遗传性耳聋的资源收集保存及基因定位克隆与分子流行病学研究[J].中国耳鼻咽喉-头颈外科杂志,2006,13:661.
3Wang QJ,Zhao YL,Rao SQ,et al.A distinct spectrum of SLC26A4mutations in patients with enlarged vestibular aque-duct in China[J].Clinical Genetics,2007,72:245.
4Hwa HL,Ko TM,Hsu CJ,et al.Mutation spectrum of the connexin26(GJB2)gene in Tai waneae patients with prelingual deafness[J].Genet Med,2003,5:161.
5Liu XZ,Xia XJ,Ke XM,et al.The prevalence of connexin26(GJB2)mutations in the Chinese population[J].Hum Genet,2002:111:394.
6郭玉芬,徐百成,韩东一,等.中国西北地区线粒体DNA12SrRNA A1555G和GJB2基因突变[J].中国耳鼻咽喉-头颈外科杂志,13:666.
7Liu X,Dai P,Huang DL,et al.Large-scale screening of mtDNA A1555G mutationin China andits significance in pre-vention of aminoglycoside antibiotic induced deafness[J].Clinese Midical Journal,2006,86:1318.