جهش هاي شايع ژن گلوبين در بخش مركزي استان آذربايجان شرقي

Prevalent Mutations of Beta- Glubin Gene at the Central Part of East-Azerbaijan, Iran

Background and Objectives:The beta- thalassaemia is one of the most common genetic disorders in Iran. About 10 -15 thousands of Iranian population are estimated to be affected by this abnormality and the risk for each Iranian, being a carrier, is about 1130. Materials and Methods:The present approach was performed on more than 80 beta-thalassaemian patients from the central part of East Azarbaijan, Iran. The mutation analysis was performed using multiplex PCR, ARMS PCR and reverse dot blot analysis. Results: The results indicate that the IVS II- 1 (G--)A) is the most common mutation, with a frequency of 32%. The frequency distributions of the other mutations were as follows: IVS I - 1 (GSA) 22.67%, Frame Shift 8/9 (+G) 18.6%, IVS I -110 (GSA) 16%, Condon 30 (G----C) 5.34% and IVS I - 5 (G-->C) 2.6%. A pair of cases was revealed to be undetectable by using the primers conducted in this study Conclusion: The results obtained from the present study suggest that the prevalence pattern of the mutation on beta- globin gene in the area of the study may differ from those reported for other parts of the country. However, these outlines are favorably compared to those reported for Iranian immigrates in the United states.