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REVISTA DE CHIMIE
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https://doi.org/10.37358/Rev.Chim.1949

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Revista de Chimie (Rev. Chim.), Year 2018, Volume 69, Issue 8, 2273-2277

https://doi.org/10.37358/RC.18.8.6514

Luminita Radulescu, Ghenadie Curocichin, Anastasia Buza, Sergiu Parii, Tatiana Meriacre, Doina Chiaburu Chiosa, Corina Butnaru, Ralf Birkenhaeger, Cristian Martu

Efficiency of SNPs for the Detection of 35DelG Mutation in 50 Cases with Nonsyndromic Hearing Loss

Abstract:

Congenital sensorineural hearing loss (SNHL) is recognized as a major public health burden. Mutations in the GJB2 gene are among the most frequent encountered etiological factors (approximately 50% of cases of autosomal recessive sensorineural non-syndromic hearing loss in the Caucasian population). Single nucleotide polymorphisms (SNPs) are important markers in studies that correlate the genotype with the phenotype. The main purpose of the study is to develop and validate a molecular-genetic screening algorithm based on the SNP rs80338939 for later use in laboratories in Romania and the Republic of Moldova. A prospective study was conducted on 50 randomly included subjects with profound congenital SNHL. The 35delG mutation was assessed by two methods: a reference method (University Medical Center Freiburg, Germany) and the method to validate: single nucleotide polymorphism (SNP) for the same mutation. We compared the results of the two methods to assess the specificity and sensitivity of the method used in the study. Results obtained indicate a sensitivity of 92% and 98% specificity for the studied method when compared with the reference method. The high sensitivity and specificity of the proposed method confirms that rs80338939 can be used as a biomarker in the assessment of the risk of autosomal recessive SNHL. In fact, we aim to optimize the technique to achieve 100% sensitivity and specificity. At the same time, we acknowledge that the screening of 35delG mutations does not replace the audiological screening tests, because the auditory function involves 1% of the human genes and mutations of any of these may lead to deafness.
Keywords:
deafness; molecular analysis; 35delG

Issue: 2018, Volume 69, Issue 8
Pages: 2273-2277
Publication date: 2018/9/15
https://doi.org/10.37358/RC.18.8.6514
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Creative Commons License
This article is published under the Creative Commons Attribution 4.0 International License
Citation Styles
Cite this article as:
RADULESCU, L., CUROCICHIN, G., BUZA, A., PARII, S., MERIACRE, T., CHIOSA, D.C., BUTNARU, C., BIRKENHAEGER, R., MARTU, C., Efficiency of SNPs for the Detection of 35DelG Mutation in 50 Cases with Nonsyndromic Hearing Loss, Rev. Chim., 69(8), 2018, 2273-2277.

Vancouver
Radulescu L, Curocichin G, Buza A, Parii S, Meriacre T, Chiosa DC, Butnaru C, Birkenhaeger R, Martu C. Efficiency of SNPs for the Detection of 35DelG Mutation in 50 Cases with Nonsyndromic Hearing Loss. Rev. Chim.[internet]. 2018 Aug;69(8):2273-2277. Available from: https://doi.org/10.37358/RC.18.8.6514


APA 6th edition
Radulescu, L., Curocichin, G., Buza, A., Parii, S., Meriacre, T., Chiosa, D.C.,... Martu, C. (2018). Efficiency of SNPs for the Detection of 35DelG Mutation in 50 Cases with Nonsyndromic Hearing Loss. Revista de Chimie, 69(8), 2273-2277. https://doi.org/10.37358/RC.18.8.6514


Harvard
Radulescu, L., Curocichin, G., Buza, A., Parii, S., Meriacre, T., Chiosa, D.C., Butnaru, C., Birkenhaeger, R., Martu, C. (2018). 'Efficiency of SNPs for the Detection of 35DelG Mutation in 50 Cases with Nonsyndromic Hearing Loss', Revista de Chimie, 69(8), pp. 2273-2277. https://doi.org/10.37358/RC.18.8.6514


IEEE
L. Radulescu, G. Curocichin, A. Buza, S. Parii, T. Meriacre, D.C. Chiosa, C. Butnaru, R. Birkenhaeger, C. Martu, "Efficiency of SNPs for the Detection of 35DelG Mutation in 50 Cases with Nonsyndromic Hearing Loss". Revista de Chimie, vol. 69, no. 8, pp. 2273-2277, 2018. [online]. https://doi.org/10.37358/RC.18.8.6514


Text
Luminita Radulescu, Ghenadie Curocichin, Anastasia Buza, Sergiu Parii, Tatiana Meriacre, Doina Chiaburu Chiosa, Corina Butnaru, Ralf Birkenhaeger, Cristian Martu,
Efficiency of SNPs for the Detection of 35DelG Mutation in 50 Cases with Nonsyndromic Hearing Loss,
Revista de Chimie,
Volume 69, Issue 8,
2018,
Pages 2273-2277,
ISSN 2668-8212,
https://doi.org/10.37358/RC.18.8.6514.
(https://revistadechimie.ro/Articles.asp?ID=6514)
Keywords: deafness; molecular analysis; 35delG


RIS
TY - JOUR
T1 - Efficiency of SNPs for the Detection of 35DelG Mutation in 50 Cases with Nonsyndromic Hearing Loss
A1 - Radulescu, Luminita
A2 - Curocichin, Ghenadie
A3 - Buza, Anastasia
A4 - Parii, Sergiu
A5 - Meriacre, Tatiana
A6 - Chiosa, Doina Chiaburu
A7 - Butnaru, Corina
A8 - Birkenhaeger, Ralf
A9 - Martu, Cristian
JF - Revista de Chimie
JO - Rev. Chim.
PB - Revista de Chimie SRL
SN - 2668-8212
Y1 - 2018
VL - 69
IS - 8
SP - 2273
EP - 2277
UR - https://doi.org/10.37358/RC.18.8.6514
KW - deafness
KW - molecular analysis
KW - 35delG
ER -


BibTex
@article{RevCh2018P2273,
author = {Radulescu Luminita and Curocichin Ghenadie and Buza Anastasia and Parii Sergiu and Meriacre Tatiana and Chiosa Doina Chiaburu and Butnaru Corina and Birkenhaeger Ralf and Martu Cristian},
title = {Efficiency of SNPs for the Detection of 35DelG Mutation in 50 Cases with Nonsyndromic Hearing Loss},
journal = {Revista de Chimie},
volume = {69},
number = {8},
pages = {2273-2277},
year = {2018},
issn = {2668-8212},
doi = {https://doi.org/10.37358/RC.18.8.6514},
url = {https://revistadechimie.ro/Articles.asp?ID=6514}
}
 
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