文章基本信息
- 标题：DETECTION OF RARE AND UNKNOWN MUTATIONS IN β- TALASSEMIA TRAITS IN IRAN
- 本地全文：下载
- 作者：HABIBI ROUDKENAR M. ; NAJMABADI H. ; DERAKHSHANDEH PEYKAR P. 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：THE SCHOOL OF PUBLIC HEALTH, TEHRAN UNIVERSITY OF MEDICAL SCIENCES
- 摘要：
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.
- 关键词：BETA-THALASSEMIA; UNKNOWN MUTATIONS; IRAN
