Sensörinöral işitme kaybi olan kişilerde mitokondriyal 12S rRNA (MTRNR1) geninin taranmasi.

Translated title of the contribution: Screening of the mitochondrial 12S rRNA (MTRNR1) gene in probands with sensorineural hearing loss

Yaprak E. Cirçir, Armaǧan Incesulu, Mustafa Tekin

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

OBJECTIVES: We investigated mitochondrial DNA 12S rRNA (MTRNR1) gene mutations as a cause of hearing loss in probands with or without a history of aminoglycoside use. PATIENTS AND METHODS: The study included 70 patients (40 females, 30 males; age range 3 to 42 years) with nonsyndromic sensorineural hearing loss. Eleven probands had a history of aminoglycoside use before the onset of hearing loss. All cases were first screened and found to be negative for the GJB2 (connexin 26) gene mutations. The m.1555A>G mutation was screened using the PCR-RFLP technique. The entire 12S rRNA gene was later screened with the PCR-TTGE technique followed by direct sequencing. RESULTS: Of 11 patients with a history of aminoglycoside use, one patient was found to have the m.1555A>G mutation. Two probands with no history of aminoglycoside use exhibited the m.750A>G polymorphism. No pathogenic base substitutions were detected in the remaining patients. CONCLUSION: Apart from the common aminoglycoside ototoxicity-related DNA change, m.1555A>G, we could not identify a common mitochondrial 12S rRNA mutation associated with hearing loss in Turkey. Screening of larger series may document rare alterations.

Original languageUndefined/Unknown
Pages (from-to)75-80
Number of pages6
JournalKulak burun boǧaz ihtisas dergisi : KBB = Journal of ear, nose, and throat
Volume17
Issue number2
StatePublished - Oct 31 2007
Externally publishedYes

Fingerprint

Sensorineural Hearing Loss
Aminoglycosides
rRNA Genes
Mutation
Hearing Loss
Polymerase Chain Reaction
Turkey
Mitochondrial DNA
Restriction Fragment Length Polymorphisms
ribosomal RNA 12S
DNA
Genes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Sensörinöral işitme kaybi olan kişilerde mitokondriyal 12S rRNA (MTRNR1) geninin taranmasi. / Cirçir, Yaprak E.; Incesulu, Armaǧan; Tekin, Mustafa.

In: Kulak burun boǧaz ihtisas dergisi : KBB = Journal of ear, nose, and throat, Vol. 17, No. 2, 31.10.2007, p. 75-80.

Research output: Contribution to journalArticle

@article{9b39645b155349a9b27c83e4da2eb343,
title = "Sens{\"o}rin{\"o}ral işitme kaybi olan kişilerde mitokondriyal 12S rRNA (MTRNR1) geninin taranmasi.",
abstract = "OBJECTIVES: We investigated mitochondrial DNA 12S rRNA (MTRNR1) gene mutations as a cause of hearing loss in probands with or without a history of aminoglycoside use. PATIENTS AND METHODS: The study included 70 patients (40 females, 30 males; age range 3 to 42 years) with nonsyndromic sensorineural hearing loss. Eleven probands had a history of aminoglycoside use before the onset of hearing loss. All cases were first screened and found to be negative for the GJB2 (connexin 26) gene mutations. The m.1555A>G mutation was screened using the PCR-RFLP technique. The entire 12S rRNA gene was later screened with the PCR-TTGE technique followed by direct sequencing. RESULTS: Of 11 patients with a history of aminoglycoside use, one patient was found to have the m.1555A>G mutation. Two probands with no history of aminoglycoside use exhibited the m.750A>G polymorphism. No pathogenic base substitutions were detected in the remaining patients. CONCLUSION: Apart from the common aminoglycoside ototoxicity-related DNA change, m.1555A>G, we could not identify a common mitochondrial 12S rRNA mutation associated with hearing loss in Turkey. Screening of larger series may document rare alterations.",
author = "Cir{\cc}ir, {Yaprak E.} and Armaǧan Incesulu and Mustafa Tekin",
year = "2007",
month = "10",
day = "31",
language = "Undefined/Unknown",
volume = "17",
pages = "75--80",
journal = "Kulak burun bogaz ihtisas dergisi : KBB = Journal of ear, nose, and throat",
issn = "1300-7475",
publisher = "I.U. Tip Fakultesi K.B.B. Anabilim Dali",
number = "2",

}

TY - JOUR

T1 - Sensörinöral işitme kaybi olan kişilerde mitokondriyal 12S rRNA (MTRNR1) geninin taranmasi.

AU - Cirçir, Yaprak E.

AU - Incesulu, Armaǧan

AU - Tekin, Mustafa

PY - 2007/10/31

Y1 - 2007/10/31

N2 - OBJECTIVES: We investigated mitochondrial DNA 12S rRNA (MTRNR1) gene mutations as a cause of hearing loss in probands with or without a history of aminoglycoside use. PATIENTS AND METHODS: The study included 70 patients (40 females, 30 males; age range 3 to 42 years) with nonsyndromic sensorineural hearing loss. Eleven probands had a history of aminoglycoside use before the onset of hearing loss. All cases were first screened and found to be negative for the GJB2 (connexin 26) gene mutations. The m.1555A>G mutation was screened using the PCR-RFLP technique. The entire 12S rRNA gene was later screened with the PCR-TTGE technique followed by direct sequencing. RESULTS: Of 11 patients with a history of aminoglycoside use, one patient was found to have the m.1555A>G mutation. Two probands with no history of aminoglycoside use exhibited the m.750A>G polymorphism. No pathogenic base substitutions were detected in the remaining patients. CONCLUSION: Apart from the common aminoglycoside ototoxicity-related DNA change, m.1555A>G, we could not identify a common mitochondrial 12S rRNA mutation associated with hearing loss in Turkey. Screening of larger series may document rare alterations.

AB - OBJECTIVES: We investigated mitochondrial DNA 12S rRNA (MTRNR1) gene mutations as a cause of hearing loss in probands with or without a history of aminoglycoside use. PATIENTS AND METHODS: The study included 70 patients (40 females, 30 males; age range 3 to 42 years) with nonsyndromic sensorineural hearing loss. Eleven probands had a history of aminoglycoside use before the onset of hearing loss. All cases were first screened and found to be negative for the GJB2 (connexin 26) gene mutations. The m.1555A>G mutation was screened using the PCR-RFLP technique. The entire 12S rRNA gene was later screened with the PCR-TTGE technique followed by direct sequencing. RESULTS: Of 11 patients with a history of aminoglycoside use, one patient was found to have the m.1555A>G mutation. Two probands with no history of aminoglycoside use exhibited the m.750A>G polymorphism. No pathogenic base substitutions were detected in the remaining patients. CONCLUSION: Apart from the common aminoglycoside ototoxicity-related DNA change, m.1555A>G, we could not identify a common mitochondrial 12S rRNA mutation associated with hearing loss in Turkey. Screening of larger series may document rare alterations.

UR - http://www.scopus.com/inward/record.url?scp=35548946739&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=35548946739&partnerID=8YFLogxK

M3 - Article

C2 - 17527057

AN - SCOPUS:35548946739

VL - 17

SP - 75

EP - 80

JO - Kulak burun bogaz ihtisas dergisi : KBB = Journal of ear, nose, and throat

JF - Kulak burun bogaz ihtisas dergisi : KBB = Journal of ear, nose, and throat

SN - 1300-7475

IS - 2

ER -