单位：[1]Huazhong Univ Sci & Technol, Dept Med Genet, Tongji Med Coll, Wuhan 430030, Peoples R China[2]Huazhong Univ Sci & Technol,Dept Otolarygol,Tongji Hosp,Tongji Med Coll,Wuhan 430030,Peoples R China华中科技大学同济医学院附属同济医院耳鼻咽喉-头颈外科[3]Rehabil Res Ctr Deaf Children, Wuhan, Peoples R China
Objective: GJB2 mutation is recognized as the prevalent causes of non-syndromic hearing impairment (NSHI) worldwide. However, the mutation profiles of this gene are unknown in deafness probands in the consanguineous pedigrees in China. Therefore, this study aimed to characterize the forms and frequencies of GJB2 mutations in 35 students with hearing loss in the consanguineous families in Hubei province, Central China. Methods: Genomic DNA was extracted from blood samples of 35 students with hearing loss. The target fragments were amplified by polymerase chain reaction (PCR) and subjected to sequencing to identify sequence variations. Results: Surprisingly, none of these probands harbored homozygous mutation in GJB2. Three GJB2 heterozygous mutations were identified: a single base pair substitution c.35G > 1 and c.139G > T, and a 2 bp deletion c.299-300delAT in three probands. Conclusion: The frequency of GJB2 mutation is relatively low in these consanguineous families, most of which were minorities. Our results suggest that screening for responsible genes other than GJB2 may be necessary for NSHI in these minorities. (C) 2011 Elsevier Ireland Ltd. All rights reserved.
第一作者单位：[2]Huazhong Univ Sci & Technol,Dept Otolarygol,Tongji Hosp,Tongji Med Coll,Wuhan 430030,Peoples R China
通讯作者：
通讯机构：[1]Huazhong Univ Sci & Technol, Dept Med Genet, Tongji Med Coll, Wuhan 430030, Peoples R China[*1]Huazhong Univ Sci & Technol, Dept Med Genet, Tongji Med Coll, 13 Hongkong Rd, Wuhan 430030, Peoples R China
推荐引用方式(GB/T 7714)：
Chen Guanming,Fu Siqing,Dong Jiashu,et al.Low frequency of GJB2 mutations in thirty-five students with hearing loss in Chinese consanguineous families[J].INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY.2011,75(12):1535-1537.doi:10.1016/j.ijporl.2011.09.001.
APA：
Chen, Guanming,Fu, Siqing,Dong, Jiashu&Chen, Peiwei.(2011).Low frequency of GJB2 mutations in thirty-five students with hearing loss in Chinese consanguineous families.INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY,75,(12)
MLA：
Chen, Guanming,et al."Low frequency of GJB2 mutations in thirty-five students with hearing loss in Chinese consanguineous families".INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY 75..12(2011):1535-1537
