Volume 16, Issue 3 (7-2012)                   ibj 2012, 16(3): 171-169 | Back to browse issues page


XML Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Nouri N, Nouri N, Aryani O, Kamalidehghan B, Houshmand M. Identification of a Novel Arylsulfatase B Gene Mutation in Three Unrelated Iranian Mucopolysaccharidosis Type-VI Patients with Different Phenotype Severity. ibj. 2012; 16 (3) :171-169
URL: http://ibj.pasteur.ac.ir/article-1-708-en.html
Abstract:  

Background: Mucopolysaccharidosis type-VI (MPS-VI), which is inherited as an autosomal recessive trait, results from the deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B) activity and the lysosomal accumulation of dermatan sulfate. In this study, ARSB mutation analysis was performed on three unrelated patients who were originally from the West Azerbaijan province of Iran. Methods: After PCR and direct DNA sequencing, DNA extraction was performed. Results: Sequencing analysis revealed a novel homozygous missense mutation in the ARSB gene at c.1457A>G [p. D486V] in three unrelated Iranian MPS-VI patients with different phenotype severity. Conclusion: The mutation type in three patients was the same probably, because of a foundation effect on their population.

Type of Study: Short Communication | Subject: Related Fields

Add your comments about this article : Your username or Email:
CAPTCHA

Send email to the article author


© 2020 All Rights Reserved | Iranian Biomedical Journal

Designed & Developed by : Yektaweb