Suppr超能文献

Hb阿瓦士[α83(F4)亮氨酸→精氨酸,CTG>CGG(α2);HBA2:c.251T>G],一种α2-珠蛋白基因的新型血红蛋白变体。

Hb AHVAZ [α83(F4)Leu→Arg, CTG>CGG (α2); HBA2: c.251T>G],a new hemoglobin variant of the α2-globin gene.

作者信息

Hamid Mohammad, Shariati Gholamreza, Saberi Alihossein, Galehdari Hamid, Kaikhaei Bijan, Mohammadi-Anaei Marziye

机构信息

Department of Molecular Medicine, Biotechnology Research Centre, Pasteur Institute of Iran, Tehran, Iran.

出版信息

Hemoglobin. 2013;37(5):477-80. doi: 10.3109/03630269.2013.792095. Epub 2013 May 15.

Abstract

We report a novel mutation on the α2-globin gene, codon 83 (T>G), which was detected in two members of two unrelated families from Khuzestan Province, South Iran, that we named Hb Ahvaz. This mutation was detected by cellulose acetate electrophoresis and characterized by molecular studies. Hb Ahvaz does not seem to be responsible for hematological abnormalities in the carriers, but with α(0)-thalassemia (α(0)-thal) defects, might induce severe clinical symptoms.

摘要

我们报告了α2-珠蛋白基因上的一个新突变,密码子83(T>G),该突变在来自伊朗南部胡齐斯坦省的两个无关家庭的两名成员中被检测到,我们将其命名为Hb Ahvaz。通过醋酸纤维素电泳检测到该突变,并通过分子研究对其进行了表征。Hb Ahvaz似乎与携带者的血液学异常无关,但与α(0)-地中海贫血(α(0)-thal)缺陷一起,可能会引发严重的临床症状。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验