PMID: 12768774May 29, 2003Paper

Mutations in the connexin 26 gene in patients with nonsyndromic hearing impairment

Zhonghua er bi yan hou ke za zhi
Zi'an XiaoJ Xia

Abstract

To determine the prevalence and characteristics of deafness-causing mutations in Connexin 26(Cx26, GJB2) gene in Chinese with nonsyndromic hearing impairment(NSHI). Study subjects are all Chinese including 16 infants with sporadic congenital deaf-mutism, 39 patients with autosomal recessive hereditary hearing loss, 30 patients with autosomal dominant hereditary hearing loss and 100 normal adults. The subjects were screened for base variations by single-strand conformational polymorphism (SSCP) analysis of the amplified products of polymerase chain reaction (PCR). Those who were found have abnormal conformational band were sequenced. Five kinds of polymorphism were found in 15 cases of controls and six kinds of polymorphism in 10 patients. No mutation was found in Cx26 gene in Chinese with autosomal recessive NSHI. Heterozygous deletion AT at position 299-300 of Cx26 cDNA, which results in premature chain termination, was found in a pedigree with autosomal dominant hereditary nonsyndromic hearing loss. The prevalence of deafness-causing mutations in Cx26 gene in Chinese with autosomal recessive NSHI maybe is lower than that of other ethnic groups. Heterozygous deletion AT at position 299-300 of Cx26 cDNA can lead to autosomal do...Continue Reading

Related Concepts

Related Feeds

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.

Related Papers

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Rong YangZhao-hui Tang
International Journal of Pediatric Otorhinolaryngology
Siti Aishah ZainalZilfalil Alwi
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Shun-chang SunChun-ying Xie
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
B PengG Li
© 2022 Meta ULC. All rights reserved