title: Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China.
abstract: Hearing loss is the most frequent sensory disorder involving a multitude of factors, and at least 50% of cases are due to genetic etiology. To further characterize the molecular etiology of hearing loss in the Chinese population, we recruited a total of 135 unrelated patients with nonsyndromic sensorineural hearing loss (NSHL) for mutational screening of GJB2, GJB3, GJB6, SLC26A4, SLC26A5 IVS2-2A>G and mitochondrial 12SrRNA, tRNA(Ser(UCN)) by PCR amplification and direct DNA sequencing. The carrier frequencies of deafness-causing mutations in these patients were 35.55% in GJB2, 3.70% in GJB6, 15.56% in SLC26A4 and 8.14% in mitochondrial 12SrRNA, respectively. The results indicate the necessity of genetic screening for mutations of these causative genes in Chinese population with nonsyndromic hearing loss.
authors.affiliation: Department of Biotechnology, Nanjing Medical University, Nanjing, Jiangsu 210029, China;
authors.forename: Yajie
authors.initials: Y
authors.lastname: Lu
authors.forename: Dachun
authors.initials: D
authors.lastname: Dai
authors.forename: Zhibin
authors.initials: Z
authors.lastname: Chen
authors.forename: Xin
authors.initials: X
authors.lastname: Cao
authors.forename: Xingkuan
authors.initials: X
authors.lastname: Bu
authors.forename: Qinjun
authors.initials: Q
authors.lastname: Wei
authors.forename: Guangqian
authors.initials: G
authors.lastname: Xing
keywords: GJB2; GJB3; GJB6; SLC26A4; SLC26A5; gene mutation; mitochondrial DNA; nonsyndromic hearing loss
references.citation: Genet Test Mol Biomarkers. 2011 Jan-Feb;15(1-2):29-33
references.pmid: 21117948
references.citation: J Genet. 2006 Dec;85(3):213-6
references.pmid: 17406097
references.citation: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2006 Jul;41(7):497-500
references.pmid: 17007371
references.citation: Eur J Hum Genet. 2002 Aug;10(8):495-8
references.pmid: 12111646
references.citation: Hum Mol Genet. 2003 May 15;12(10):1155-62
references.pmid: 12719379
references.citation: N Engl J Med. 1998 Feb 19;338(8):548-50
references.pmid: 9471561
references.citation: Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2008 Jan;22(1):14-7, 21
references.pmid: 18338563
references.citation: Genet Test Mol Biomarkers. 2009 Oct;13(5):693-9
references.pmid: 19814620
references.citation: Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2007 Jan;21(1):3-6
references.pmid: 17438853
references.citation: Audiol Neurootol. 2010;15(3):194-202
references.pmid: 19887791
references.citation: Ear Hear. 2009 Feb;30(1):1-7
references.pmid: 19125024
references.citation: BMC Ear Nose Throat Disord. 2005 Dec 08;5:11
references.pmid: 16336662
references.citation: Otol Neurotol. 2007 Oct;28(7):884-6
references.pmid: 17955603
references.citation: J Med Genet. 2004 Aug;41(8):615-20
references.pmid: 15286157
references.citation: Genet Test. 2008 Dec;12(4):569-74
references.pmid: 19072567
references.citation: J Med Genet. 2000 Jan;37(1):41-3
references.pmid: 10633133
references.citation: Ear Hear. 2003 Aug;24(4):303-13
references.pmid: 12923421
references.citation: Eur J Hum Genet. 2008 Aug;16(8):888-96
references.pmid: 18285825
references.citation: Genet Med. 2003 May-Jun;5(3):161-5
references.pmid: 12792423
references.citation: Genet Test. 2007 Winter;11(4):347-52
references.pmid: 18294049
references.citation: Int J Pediatr Otorhinolaryngol. 2008 Sep;72(9):1301-9
references.pmid: 18585793
references.citation: Int J Mol Med. 2007 Sep;20(3):315-21
references.pmid: 17671735
references.citation: Genomics. 1999 Dec 1;62(2):172-6
references.pmid: 10610709
references.citation: J Appl Genet. 2004;45(2):249-54
references.pmid: 15131355
references.citation: Br Med Bull. 2002;63:73-94
references.pmid: 12324385
references.citation: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2007 Dec;42(12):893-7
references.pmid: 18335745
references.citation: Am J Med Genet A. 2007 Apr 15;143A(8):830-8
references.pmid: 17357124
references.citation: J Genet. 2009 Dec;88(3):267-72
references.pmid: 20086291
references.citation: Am J Med Genet A. 2007 Nov 1;143A(21):2534-43
references.pmid: 17935238
references.citation: J Med Genet. 2003 Apr;40(4):242-8
references.pmid: 12676893
references.citation: Hum Genet. 2003 Apr;112(4):329-33
references.pmid: 12560944
references.citation: J Med Genet. 2005 Jul;42(7):588-94
references.pmid: 15994881
references.citation: Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2008 Nov;22(22):1026-7, 1031
references.pmid: 19266817
references.citation: Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2009 Jun;34(6):498-503
references.pmid: 19587431
references.citation: Genet Test. 2006 Winter;10(4):285-9
references.pmid: 17253936
references.citation: Clin Genet. 2005 Dec;68(6):506-12
references.pmid: 16283880