共 34 条
Connexin 26 and 30 mutations in paediatric patients with congenital, non-syndromic hearing loss treated with cochlear implantation in Mediterranean Turkey
被引:8
作者:

Tarkan, O.
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机构:
Cukurova Univ, Dept Otolaryngol Head & Neck Surg, Fac Med, TR-01330 Adana, Turkey Cukurova Univ, Dept Otolaryngol Head & Neck Surg, Fac Med, TR-01330 Adana, Turkey

Sari, P.
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h-index: 0
机构:
Cukurova Univ, Dept Otolaryngol Head & Neck Surg, Fac Med, TR-01330 Adana, Turkey Cukurova Univ, Dept Otolaryngol Head & Neck Surg, Fac Med, TR-01330 Adana, Turkey

Demirhan, O.
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h-index: 0
机构:
Cukurova Univ, Dept Med Biol & Genet, Fac Med, TR-01330 Adana, Turkey Cukurova Univ, Dept Otolaryngol Head & Neck Surg, Fac Med, TR-01330 Adana, Turkey

Kiroglu, M.
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h-index: 0
机构:
Cukurova Univ, Dept Otolaryngol Head & Neck Surg, Fac Med, TR-01330 Adana, Turkey Cukurova Univ, Dept Otolaryngol Head & Neck Surg, Fac Med, TR-01330 Adana, Turkey

Tuncer, U.
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Cukurova Univ, Dept Otolaryngol Head & Neck Surg, Fac Med, TR-01330 Adana, Turkey Cukurova Univ, Dept Otolaryngol Head & Neck Surg, Fac Med, TR-01330 Adana, Turkey

Surmelioglu, O.
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Cukurova Univ, Dept Otolaryngol Head & Neck Surg, Fac Med, TR-01330 Adana, Turkey Cukurova Univ, Dept Otolaryngol Head & Neck Surg, Fac Med, TR-01330 Adana, Turkey

Ozdemir, S.
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h-index: 0
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Cukurova Univ, Dept Otolaryngol Head & Neck Surg, Fac Med, TR-01330 Adana, Turkey Cukurova Univ, Dept Otolaryngol Head & Neck Surg, Fac Med, TR-01330 Adana, Turkey

Yilmaz, M. B.
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h-index: 0
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Cukurova Univ, Dept Med Biol & Genet, Fac Med, TR-01330 Adana, Turkey Cukurova Univ, Dept Otolaryngol Head & Neck Surg, Fac Med, TR-01330 Adana, Turkey

Kara, K.
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h-index: 0
机构:
Cukurova Univ, Dept Otolaryngol Head & Neck Surg, Fac Med, TR-01330 Adana, Turkey Cukurova Univ, Dept Otolaryngol Head & Neck Surg, Fac Med, TR-01330 Adana, Turkey
机构:
[1] Cukurova Univ, Dept Otolaryngol Head & Neck Surg, Fac Med, TR-01330 Adana, Turkey
[2] Cukurova Univ, Dept Med Biol & Genet, Fac Med, TR-01330 Adana, Turkey
关键词:
Connexins;
Hearing Loss;
Cochlear Implants;
Humans;
GJB2;
Protein;
Human;
GJB6;
GJB2;
CONNEXIN-26;
35DELG MUTATION;
CARRIER FREQUENCY;
GENE-MUTATIONS;
GAP-JUNCTION;
DEAFNESS;
POPULATION;
PREVALENCE;
FAMILIES;
DEL(GJB6-D13S1830);
D O I:
10.1017/S0022215112002587
中图分类号:
R76 [耳鼻咽喉科学];
学科分类号:
100213 ;
摘要:
Objective: Mutations in the genes for connexin 26 (GJB2) and connexin 30 (GJB6) play an important role in autosomal recessive, non-syndromic hearing loss. This study aimed to detect the 35delG and 167delT mutations of the GJB2 gene and the del(GJB6-D13S1830) mutation of the GJB6 gene in paediatric patients diagnosed with congenital, non-syndromic hearing loss and treated with cochlear implantation in Mediterranean Turkey. Materials and method: We included 94 children diagnosed with congenital, non-syndromic hearing loss and treated with cochlear implantation. Blood samples were collected, DNA extracted and an enzyme-linked immunosorbent assay performed to enable molecular diagnosis of mutations. Results: Of the 94 children analysed, the 35delG mutation was detected in 12 (12.7 per cent): 10 (83.3 per cent) were homozygous and 2 (16.7 per cent) heterozygous mutant. The 167delT and del(GJB6-D13S1830) mutations were not detected. Conclusion: The GJB2-35delG mutation is a major cause of congenital, non-syndromic hearing loss in this study population.
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页码:33 / 37
页数:5
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