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Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss

✍ Scribed by Siti Aishah Zainal; Mohd Khairi Md Daud; Normastura Abd Rahman; Zafarina Zainuddin; Zilfalil Alwi


Book ID
118454404
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
191 KB
Volume
76
Category
Article
ISSN
0165-5876

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Mutations in the GJB2 gene encoding the gap-junction protein connexin 26 have been identified in many patients with childhood hearing impairment (HI). One single mutation, c.35delG, accounts for the majority of mutations in Caucasian patients with HI. In the present study we screened 500 healthy con

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Hereditary hearing loss (HHL) is an extremely common disorder. About 70% of HHL is non-syndromic, with autosomal recessive forms accounting for ~ 85% of the genetic load. Although very heterogeneous, the most common cause of HHL in many different world populations is mutations of GJB2, a gene that e