非综合征型X-连锁遗传性聋致病基因的研究进展

下载PDF

导出

作者李庆忠王秋菊韩东一

机构地区解放军总医院耳鼻咽喉-头颈外科

出处《听力学及言语疾病杂志》 CAS CSCD 2004年第6期425-427,共3页 Journal of Audiology and Speech Pathology

基金 "8 63"计划面上项目 (编号 2 0 0 1AA2 2 10 92 ) 国家自然科学基金面上项目 (编号 A3 0 170 5 3 0 ) 北京市科技创新项目 (编号 H0 1L0 2 10 160 119)

关键词非综合征型X-连锁遗传性聋致病基因研究进展遗传病

参考文献14

1Morton NE. Genetic epidemiology of hearing impairment[J]. Ann NY Aced Sci,1991,630: 16.
2Barbara L, Resendes, Robin E, et al. At the speed of sound: Gene discovery in the auditory system[J]. Am J Hum Genet,2001,69: 923.
3Petit C, Levilliers J, Hardelin JP. Molecular genetics of hearing loss [J]. Annu Rev Genet,2001,35:589.
4Tyson J, Bellman S, Newton V, et al. Mapping of DFN2 to Xq22[J].Hum Molec Genet, 1996,5: 2055.
5Castillo ID, Villamar M, Sarduy M, et al. A novel locus for nonsyndromic sensorineural deafness (DFN6) maps to chromosome Xp22 [J] .Hum Molec, 1996,5:1 383.
6Trauebjaerg L, Schwartz C, Eriksen H, et al. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22[J] .J Med Genet, 1995,32:257.
7Jin H, May M, Trauebjaerg L, et al. A novel X- linked gene, DDP,shows mutations in families with deafness (DFN - 1 ), dystonia, mental deficiency and blindness[J]. Nat Genet, 1996,14:177.
8Vetrie D, Vorechovsky Ⅰ, Sideras P, et al. The gene involved in Xlinked agammaglobulinaemia is a member of the arc family of proteintyrosine kinases [ J ]. Nature, 1993,361: 226.
9Koehler C, Leuenberger. D, Merchant S, et al. Human deafness dystonia syndrome is a mitochondrial disense[J]. Proc Nat Acad Sci, 1999,96:2 141.
10Manolis E, Eavey R, Sangwatanaroj S, et al. Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21 [J]. Am J Oto, 1999,20:621.

听力学及言语疾病杂志

2004年第6期

内容加载中请稍等...