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Paper Information

Journal:   IRANIAN JOURNAL OF PUBLIC HEALTH   2003 , Volume 32 , Number 1; Page(s) 11 To 14.
 
Paper: 

DETECTION OF RARE AND UNKNOWN MUTATIONS IN β- TALASSEMIA TRAITS IN IRAN

 
 
Author(s):  HABIBI ROUDKENAR M., NAJMABADI H., DERAKHSHANDEH PEYKAR P., FARHOUD D.D.*
 
* DEPT. OF HUMAN GENETIC, SCHOOL OF PUBLIC HEALTH, TEHRAN UNIVERSITY OF MEDICAL SCIENCES, TEHRAN, IRAN
 
Abstract: 

Beta-thalassemia, by its high frequency and heterogeneity, constitutes a real problem of health in Iran. About 13 beta globin mutations encompass 70-90% of mutations spectrum in Iran, the rest are rare or unknown. In this study six mutations of the codon IVSI-130(G-C), Frl6 (-C), codon35 (-C), fr23/24(-G), codon8 (+G) and codon 20 (GTG-GAG) were recognized and added to spectrum of beta globin mutations in Iran, using ARMS/PCR and DNA sequencing. Three latter cases are reported for first time.

 
Keyword(s): BETA-THALASSEMIA, UNKNOWN MUTATIONS, IRAN
 
References: 
 
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