Mutation Analysis of the Cyp21a2 Gene in Congenital Adrenal Hyperplasia

Mutation Analysis of the Cyp21a2 Gene in Congenital Adrenal Hyperplasia Publisher Pubmed

Forouzanfar K¹ ; Seifi M² ; Hashemigorji F³ ; Karimi N¹ ; Estiar MA⁴ ; Karimoei M⁵ ; Sakhinia E⁶ ; Karimipour M⁷ ; Ghergherehchi R⁸

Show Affiliations

1. Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
2. Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada
3. Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
4. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
5. Department of Clinical Biochemistry, Tehran University of Medical Science, Tehran, Iran
6. Biotechnology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
7. Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran
8. Pediatric Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran

Source: Cellular and Molecular Biology Published:2015

Abstract

Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive enzymatic disorder involving the synthesis of adrenal corticosteroids. 21-Hydroxylase deficiency (21-OHD) is the most common form of the disease which is observed in more than 90% of patients with CAH. Early identification of mutations in the genes involved in this disease is critical. A marker of the disease, errors in the CYP21A2 gene, is thought to be part of the pathophysiology of CAH. Therefore, the identification of gene mutations would be very beneficial in the early detection of CAH. This research was a descriptive epidemiological study conducted on individuals elected by the inclusion criteria whom were referred to the Genetic Diagnosis Center of Tabriz during 2012 to 2013. After sampling and DNA extraction, PCR for the detection of mutations in the CYP21A2 gene was performed followed by sequencing. For data analysis, the results of sequencing were compared with the reference gene by blast, Gene Runner and MEGA-5 software. Obtained changes were compared with NCBI databases. The analysis of the sequencing determined the mutations located in Exons 6, 7, 8 and 10. The most frequent findings were Q318X (53%) and R356W (28%). Exon 6 cluster (7%), E431k (4%), V237E (2%), V281L (2%), E351K (2%), R426C (2%) were also frequent in our patients. The most frequent genotype was compound heterozygote, Q318X/R356W. Three rare mutations in our study were E431K, E351K and R426C. Observed mutation frequencies in this study were much higher than those reported in previous studies in Iranian populations. Thus, it seems that it is necessary to follow-up screening programs and use sequencing methods to better identify mutations in the development of the disease. © 2015.

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Style	Citing Format
MLA	Forouzanfar K, et al.. "Mutation Analysis of the Cyp21a2 Gene in Congenital Adrenal Hyperplasia." Cellular and Molecular Biology, vol. 61, no. 4, 2015, pp. 51-55.
APA	Forouzanfar K, Seifi M, Hashemigorji F, Karimi N, Estiar MA, Karimoei M, Sakhinia E, Karimipour M, Ghergherehchi R (2015). Mutation Analysis of the Cyp21a2 Gene in Congenital Adrenal Hyperplasia. Cellular and Molecular Biology, 61(4), 51-55.
Chicago	Forouzanfar K, Seifi M, Hashemigorji F, Karimi N, Estiar MA, Karimoei M, Sakhinia E, Karimipour M, Ghergherehchi R. "Mutation Analysis of the Cyp21a2 Gene in Congenital Adrenal Hyperplasia." Cellular and Molecular Biology 61, no. 4 (2015): 51-55.
Harvard	Forouzanfar K et al. (2015) 'Mutation Analysis of the Cyp21a2 Gene in Congenital Adrenal Hyperplasia', Cellular and Molecular Biology, 61(4), pp. 51-55.
Vancouver	Forouzanfar K, Seifi M, Hashemigorji F, Karimi N, Estiar MA, Karimoei M, et al.. Mutation Analysis of the Cyp21a2 Gene in Congenital Adrenal Hyperplasia. Cellular and Molecular Biology. 2015;61(4):51-55.
BibTex	@article{ author = {Forouzanfar K and Seifi M and Hashemigorji F and Karimi N and Estiar MA and Karimoei M and Sakhinia E and Karimipour M and Ghergherehchi R}, title = {Mutation Analysis of the Cyp21a2 Gene in Congenital Adrenal Hyperplasia}, journal = {Cellular and Molecular Biology}, volume = {61}, number = {4}, pages = {51-55}, year = {2015} }
RIS	TY - JOUR AU - Forouzanfar K AU - Seifi M AU - Hashemigorji F AU - Karimi N AU - Estiar MA AU - Karimoei M AU - Sakhinia E AU - Karimipour M AU - Ghergherehchi R TI - Mutation Analysis of the Cyp21a2 Gene in Congenital Adrenal Hyperplasia JO - Cellular and Molecular Biology VL - 61 IS - 4 SP - 51 EP - 55 PY - 2015 ER -

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