174
Views
4
CrossRef citations to date
0
Altmetric
Original Article

Determination of the carrier frequencies of selected GJB2 mutations in the Korean population

, , , , , , & show all
Pages 694-698 | Received 09 Sep 2010, Accepted 09 Feb 2011, Published online: 05 Aug 2011
 

Abstract

Abstract

Objective: Mutations in the GJB2 gene are a major cause of hereditary hearing loss. However, only a few studies have investigated carrier frequencies of GJB2 mutations in the general population. The aim of this study was to estimate the carrier frequencies of three GJB2 mutations, including 235delC, V37I, and G45E, in the general Korean population. Design: A standard questionnaire of self-reported hearing loss was used to identify and recruit subjects. Screening for three mutations was performed using an allele-specific polymerase chain reaction (PCR), PCR-restriction fragment length polymorphism, and direct DNA sequencing. Study sample: A total of 1256 unrelated healthy individuals were analysed in the present study. Results: Of the 1256 individuals, 24 had GJB2 mutations; 11 were found to be heterozygous for 235delC, 11 were heterozygous and one was homozygous for V37I, and one was heterozygous for G45E. One individual had a compound heterozygous mutation of 235delC/V37I. The allele frequencies of 235delC, V37I, and G45E mutations were 0.44%, 0.52%, and 0.04%, respectively. The carrier frequency of either the 235delC or V37I mutation was estimated to be 0.88% with 95% binomial CI, 0.44–1.56. Conclusions: These results will facilitate diagnosis of, and genetic counseling for, hearing loss in Koreans.

Sumario

Objetivo: Las mutaciones del gene GJB2 son una causa muy importante de pérdidas auditivas hereditarias. No obstante, solamente pocos estudios han investigado las frecuencias portadoras de las mutaciones del GJB2 en la población general. El objetivo de este estudio fue estimar las frecuencias portadoras de tres mutaciones del GJB2, incluyendo la 235delC, V37I y G45E, en la población general de Corea. Diseño: Se utilizó un cuestionario estándar de pérdida auditiva auto-reportada para identificar y reclutar sujetos. El tamiz de las tres mutaciones se realizó usando una reacción en cadena de la polimerasa alelo-específica (PCR), el polimorfismo de los fragmentos de restricción PCR y la secuenciación directa de DNA. Muestra de estudio: Se analizaron en este estudio 1,256 individuos sanos, no relacionados, (sanos en este estudio). Resultados: De los 1,256 individuos, 24 tenían mutaciones del GJB2; 11 se encontraron como heterocigóticos para el 235delC, 11 fueron heterocig ticos y uno fue homocigótico para V37I y uno fue heterocigótico para G45E. Un individuo tenía una mutación heterocigótica compuesta del 235delC/V37I. Las frecuencias de las mutaciones del alelo de 235delC, V37I, y G45E fueron del 0.44%, 0.52%, y 0.04%, respectivamente. La frecuencia portadora de las mutaciones tanto del 235delC como del V37I se estimó en 0.88%, con CI binomial del 95% de 0.44-1.56. Conclusiones: Estos resultados facilitarán el diagnóstico y el asesoramiento genético en casos de pérdida auditiva en la población de Corea.

Acknowledgements

This study was supported by the Department of Medical Genetics Laboratory at The Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea. We thank Mr. Joong Sub Lee for revision of the English text.

Declaration of interest: The authors report no conflicts of interest.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.