血红蛋白拉奎拉[β106（G8）亮氨酸→缬氨酸，CTG→GTG]：一种新型地中海贫血血红蛋白变异体。
Hb L'Aquila [beta106(G8)Leu-->Val, CTG-->GTG]: a novel thalassemic hemoglobin variant.
作者信息
Amato Antonio, Cappabianca Maria Pia, Ponzini Donatella, Rinaldi Silvana, Biagio Paola Di, Foglietta Enrica, Grisanti Paola, Mastropietro Fabrizio
机构信息
Associazione Nazionale Microcitemie Italia (ANMI ONLUS), Centro Studi Microcitemie di Roma, Roma, Italia.
出版信息
Hemoglobin. 2007;31(3):375-8. doi: 10.1080/03630260701462055.
PMID:17654075
Abstract
A new beta-globin variant at codon 106 (CTG-->GTG), and which we named Hb L'Aquila [beta106(G8)Leu-->Val], was detected by DNA analysis. The proband and her father presented with the features of a mild beta(+)-thalassemia (thal), confirmed by their alpha/beta-globin chain biosynthesis ratios.
摘要
通过DNA分析检测到一种位于密码子106（CTG→GTG）的新型β-珠蛋白变体，我们将其命名为Hb拉奎拉[β106(G8)Leu→Val]。先证者及其父亲表现出轻度β(+)-地中海贫血（地贫）的特征，这通过他们的α/β-珠蛋白链生物合成比率得到证实。
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