지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2014.1
- 수록면
- 733 - 737 (5page)
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초록· 키워드
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SLC26A4 mutations are common cause of congenital hearing loss in East Asia. The carrier frequency of SLC26A4 mutations is 1 in 75 in Korean populations. The SLC26A4 mutation spectrum varies according to the population. The most common mutation in Korean is replacement of histidine by arginine at codon 723 followed by exchange of guanine for adenine at the consensus acceptor splice site of intron 7, adenine to guanine change at position +3 transition donor splice site of intron 9, methionine to valine at position 147, and frameshift mutation by insertion T at N-terminal 2. Recent studies analyzed the genotype-phenotype correlation of SLC26A4 mutation and suggested that surface expression ratio of pendrin and residual anion exchange activity was related to the genotype of SLC26A4 mutations. The targeted drug to Korean SLC26A4 mutations would be helpful in preserving hearing in patients with SLC26A4 mutations. Korean J Otorhinolaryngol-Head Neck Surg 2014;57(11):733-7
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참고문헌 (23)
참고문헌 신청
Abe S / 2000 / Prevalent connexin 26 gene (GJB2) mutations in Japanese / J Med Genet 37 (1) : 41 ~ 43
Azaiez H / 2007 / Genotype-phenotype correlations for SLC26A4-related deafness / Hum Genet 122 (5) : 451 ~ 457
Colvin IB / 2006 / Long-term follow-up of hearing loss in children and young adults with enlarged vestibular aqueducts:relationship to radiologic findings and Pendred syndro
Everett LA / 1997 / Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) / Nat Genet 17 (4) : 411 ~ 422
Guo YF / 2008 / GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects / Acta Otolaryngol 128 (3) : 297 ~ 303
Azaiez H / 2007 / Genotype-phenotype correlations for SLC26A4-related deafness / Hum Genet 122 (5) : 451 ~ 457
Colvin IB / 2006 / Long-term follow-up of hearing loss in children and young adults with enlarged vestibular aqueducts:relationship to radiologic findings and Pendred syndro
Everett LA / 1997 / Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) / Nat Genet 17 (4) : 411 ~ 422
Guo YF / 2008 / GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects / Acta Otolaryngol 128 (3) : 297 ~ 303
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