遗传性传导性聋家系的遗传学特征分析
Genetic Analysis of Hereditary Conductive Hearing Impairment in a Chinese Family
袁虎;韩东一;王秋菊;赵亚丽;兰兰;
1:解放军总医院耳鼻咽喉-头颈外科解放军耳鼻咽喉研究所
2:解放军总医院耳鼻咽喉-头颈外科解放军耳鼻咽喉研究所
3:解放军总医院耳鼻咽喉-头颈外科解放军耳鼻咽喉研究所
4:解放军总医院耳鼻咽喉-头颈外科解放军耳鼻咽喉研究所





1Moon SK,Lee HY,Li JD,et al.Activation of a Src-dependent Raf-MEK1/2-ERKsignaling pathway is required for IL-1alpha-in-duced upregulation of beta-defensin2in human middle ear epithelial cells[J].BiochimBiophys Acta,2002,1590:41.
2Kariya S,Okano M,Aoji K,et al.Role of macrophage migrationin-hibitoryfactor in otitis media with effusion in adults[J].Clin DiagnLab Immunol,2003,10:417.
3Kusunoki T,Nishida S,Murata K,et al.Cathepsin Lactivity andits inhibitor in human otitis media[J].J Otolaryngol,2001,30:157.
4Chi HP,Ho KY,Chai CY,et al.Epidermal growthfactor expression in middle ear cholesteatoma[J].Kaohsiung J Med Sci,2004,20:6.
5Jackson LG,Barr MA.Conductive deafness with ptosis and skeletal malformations in sibs:a probably autosomal recessive disorder[J].Birth Defects Orig Artic Ser,1978,14:199.
6Kaplan P,Plauchu H,Fitch N,et al.Anewacro-cranio-facial dysostosis syndrome in sisters[J].AmJ Med Genet,1988,29:95.
7Davenport SLH,Hefner MA,Mitchell JA,et al.The spectrum of clinical features in Charge syndrome[J].Clin Genet,1986,29:298.
8Hedera P,Toriello HV,Petty EM,et al.Novel autosomal dominant mandibulofacial dysostosis with ptosis:clinical description and exclu-sion of TCOF1[J].J Med Genet,2002,39:484.
9Teunissen EB,Cremers WR.Classification of congenital middle ear anomalies.Report on144ears[J].Ann Otol Rhinol Laryngol,1993,102(8Pt1):606.
10Tan TY,GohJP.Imagingof congenital middle ear deafness.Depart-ment of Radiology[J].Ann Acad Med Singapore,2003,32:495.
11姜泗长,顾瑞,王正敏,等.耳科学[M].第2版.上海:上海科学技术出版社,2002.18~22.