|
KMID : 0858620010050020105
|
|
Korean Journal of Audiology
2001 Volume.5 No. 2 p.105 ~ p.110
|
|
|
Molecular Genetic Analysis of Connexin 26 in Congenital Profound Hearing Loss
|
|
Lee Sang-Heun
Lee Jung-Rea
Lee Ji-Eun
Kim Tae-Jung
Kang Bong-Seok
|
|
|
Abstract
|
|
|
Background and Objectives：Deafness is a complex disorder that affects about one infant in a thousand and about 4% of people aged younger than 45 years. Non-syndromic autosomal recessive deafness (NSRD) is the most common form of genetic hearing loss. Mutation in connexin 26 gene was found to be the most common cause of NSRD. Using direct sequencing techinque, we investigated mutations in the connexin 26 gene in familial and sporadic cases of congenital deafness.
Materials and Method：We obtained DNA samples from 24 patients who visit the out-patient department of Kyounpook University Hospital, and from 68 patients attending two special schools for deafness. We undergo history taking, physical examinations and audiologic evaluation. We analysed the coding region of GJB2 gene for mutation, and also tested 10 general population with normal hearing.
Results：Among 92 patients, 42 patients had family history of hearing impairment. We sequenced connexin 26 in all patients. Four homozygotes and one heterozygote of 235delC were observed in deafness patients. Also 16 homozygotes and 30 heterozygote of V27I, 1 homozygote of V37I, 9 homozygotes and 6 heterozygoes of E114G were observed.
Conclusion：The mutation of connexin 26 gene, like V27I, V37I, E114G, and 235 delC were observed. 35delG as reported the most common form of mutaion in connexin 26 gene in western countries, were not found. But 235delC were found in 4.9% in deafness patients in Korea. It seems that mutation in connexin 26 is different as to races and 235delC is considered the most common form of connexin 26 gene mutation in Korea.
|
|
|
KEYWORD
|
|
|
Congenital hearing loss, Connexin 26, Autosomal recessive
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|
|
|