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Updated: Jun 7, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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通过一种常见的变体激活γ-环球蛋白表达,破坏β-thalassemia中的IKAROS结合动机

Hualei Luo1, Jueheng Wang2, Lang Qin1

  • 1Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong 510515, China; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong 510515, China.

Journal of genetics and genomics = Yi chuan xue bao
|November 9, 2024
PubMed
概括

一种新发现的基因变异 (rs7948668) 与患有β-thalassemia的个体的胎儿血红蛋白 (Hb F) 水平增加有关. 这一发现为血液疾病提供了潜在的新治疗点.

关键词:
胎儿的血红蛋白 胎儿的血红蛋白伊卡洛斯 (IKAROS) 是一个象牙.控制区域的位置控制区域.单个核酸的多态性.在β-thalassemia中,

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