文章基本信息

标题：Detection of Rare and Unknown Mutations in ß- tathalassemia Traits in Iran
其他标题：Detection of Rare and Unknown Mutations in ß- tathalassemia Traits in Iran
作者：M Habibi Roudknar ; H Najmabadi ; P Derakhshandeh 等
期刊名称：Iranian Journal of Public Health
印刷版ISSN：2251-6085
电子版ISSN：2251-6093
出版年度：2003
卷号：32
期号：1
页码：11-14
语种：English
出版社：Tehran University of Medical Sciences
摘要：Beta-thalassemia, by its high frequency and heterogenecity, constitues a real problem of health in Iran. Aboute 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), Fr16 (-C), codon35 (-C), fr23/24(-G), codon8 (+G) and codon 20 (GTG-GAG) were recognized and added to spectrom of beta globin mutations in Iran, Using ARMS/PCR and DNA sequencing. Three latter cases are reported for first time.
关键词：Beta-thalassemia; Unknown mutations