Title

Next generation sequencing (NGS) in glucose-6-phosphate dehydrogenase (G6PD) deficiency studies

Authors

Neda M. Bogari

Affiliation

Faculty of Medicine, Department of Medical Genetics, Umm Al-Qura University, Makkah-24382, Kingdom of Saudi Arabia;

Email

Neda M Bogari - Email: NMbogari@uqu.edu.sa; Phone: +966555500150; *Corresponding author

Article Type

Views

Date

Received March 05, 2016; Revised March 07, 2016; Accepted March 07, 2016; Published April 10, 2016

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is commonly observed in human males. It is a genetic disorder affecting the red blood cells. The diagnosis of G6PD is usually based on blood analysis and there is no specific molecular or genetic test. The complete gene sequence of G6PD is known for different ethnicities. Known single nucleotide polymorphism (SNP) associated with G6PD is available in the public databases. Hence, robust, fast and efficient sequencing of G6PD is critical in disease diagnosis. The application of next generation sequencing (NGS) with its high reliability is useful in G6PD diagnosis.

Keywords

G6PD deficiency; NGS; SNP; diagnosis

Citation

Bogari, Bioinformation 12(2): 41-43 (2016)

Edited by

P Kangueane

ISSN

0973-2063

Publisher

Biomedical Informatics

License

This is an Open Access article which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. This is distributed under the terms of the Creative Commons Attribution License.