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Connexin 26 mutatio...
Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland
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Lopponen, T (författare)
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Vaisanen, ML (författare)
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Luotonen, M (författare)
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visa fler...
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Allinen, M (författare)
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Uusimaa, J (författare)
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Lindholm, P (författare)
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- Mäki-Torkko, Elina (författare)
- Lund University,Lunds universitet,Öron-, näs- och halssjukdomar, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Otorhinolaryngology (Lund),Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine
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Vayrynen, M (författare)
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Lopponen, H (författare)
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Leisti, J (författare)
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visa färre...
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(creator_code:org_t)
- 2003
- 2003
- Engelska.
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Ingår i: Laryngoscope. - 1531-4995. ; 113:10, s. 1758-1763
- Relaterad länk:
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https://lup.lub.lu.s...
Abstract
Ämnesord
Stäng
- Objective: The aims of the present study were to evaluate the role of the gap junction protein beta-2 gene (GJB2), encoding connexin 26 (Cx26), in children with moderate to profound prelingual nonsyndromic sensorineural hearing impairment (HI) and to investigate the carrier frequencies of the GJB2 gene mutations in a control population in Northern Finland. Methods: Mutation analysis was performed by direct sequencing and carrier detection by conformation sensitive gel electrophoresis further confirmed by direct sequencing. Results: Cx26 mutations were found in 15 of 71 (21.1%) (67 families) children with HI. Homozygosity for the mutation 35delG was shown to be the cause of HI in 13 of 15 (86.7%) children. Homozygosity for the M34T genotype was found in one child, and compound heterozygosity for the M34T/V37I genotype was found in another. Five families of those with suspected familial HI (29.4%) and six families out of those with sporadic HI (12.0%) had a homozygous or compound heterozygous mutation. The carrier frequency for the mutation 35delG was 1 of 78 (4 of 313) and that for the M34T was I of 26 (12 of 313). Conclusion: 35deIG/35deIG genotype was found to be a significant cause of moderate to profound prelingual. nonsyndromic sensorineural HI in Northern Finland. M34T/M34T genotype was seen in only one child, but the carrier frequency of the M34T allele was about three times higher than that of the 35delG mutation.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oto-rhino-laryngologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Otorhinolaryngology (hsv//eng)
Nyckelord
- M34T
- (GJB2)
- sensorineural hearing impairment
- gap junction protein beta-2 gene
- 35delG
- connexin 26 (Cx26)
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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Till lärosätets databas
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Lopponen, T
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Vaisanen, ML
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Luotonen, M
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Allinen, M
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Uusimaa, J
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Lindholm, P
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visa fler...
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Mäki-Torkko, Eli ...
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Vayrynen, M
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Lopponen, H
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Leisti, J
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visa färre...
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