Application of allele-specific primer extension-based microarray for simultaneous multi-gene mutation screening in patients with non-syndromic hearing loss

Choi,Soo-Young; Lee,Kyu-Yup; Kim,Young-Eun; Bae,Jae-Woong; Oh,Se-Kyung; Kim,So-Yeon; Hwang,Sang-Joon; Kim,Un-Kyung; Lee,Sang-Heun

doi:10.3892/ijmm_00000347

March 2010 Volume 25 Issue 3

Full Size Image

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

An International Open Access Journal Devoted to General Medicine.

March 2010 Volume 25 Issue 3

Full Size Image

Article

Application of allele-specific primer extension-based microarray for simultaneous multi-gene mutation screening in patients with non-syndromic hearing loss

Authors:
- Soo-Young Choi
- Kyu-Yup Lee
- Young-Eun Kim
- Jae-Woong Bae
- Se-Kyung Oh
- So-Yeon Kim
- Sang-Joon Hwang
- Un-Kyung Kim
- Sang-Heun Lee
View Affiliations / Copyright

Affiliations: Department of Biology, College of Natural Sciences, College of Medicine, Kyungpook National University, Deagu, Korea
Pages: 315-320
|
Published online on: March 1, 2010

https://doi.org/10.3892/ijmm_00000347
Expand metrics +

Abstract

Congenital hearing loss (HL) is the most common sensory disorder in humans, affecting one in 1000 infants at birth. A high degree of genetic heterogeneity makes it difficult to screen for mutations in all known deafness genes in clinical applications. We have improved a genotyping microarray using the multiplex PCR-based allele-specific primer extension (ASPE) reaction and applied this method for the genetic diagnosis of congenital HL in Korea. Seven different mutations in the GJB2, SLC26A4 and mitochondrial 12S rRNA genes, which were identified on the basis of a previous study in a Korean population, were selected for the study. These genes were used to evaluate the accuracy of the microarray. The test for validation of the current version of HL genotyping microarray was fully concordant with the results of DNA sequencing in which 51 subjects with non-syndromic HL were originally genotyped. Furthermore, the blind test of the genotyping microarray detected four different mutations in 10 out of 65 patients, and the accuracy of microarray was calculated as 98% (64/65). Therefore, our results suggest that this HL genotyping microarray will be useful in clinical applications for the genetic diagnosis of HL.

Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Application of allele-specific primer extension-based microarray for simultaneous multi-gene mutation screening in patients with non-syndromic hearing loss

This article is mentioned in:

Abstract

Related Articles