α及β地中海贫血的分子基础探析

Molecular basis for understanding of α and β thalassemia

地中海贫血是一种起源于地中海及东南亚地区的,广泛传播的遗传疾病。现今普遍认为,α及β珠蛋白基因簇的上游顺式元件是调控α及β珠蛋白基因表达的关键因素。然而在过去的十年间,一些由不属于α及β珠蛋白基因簇的基因突变所引起的地中海贫血屡有发生,如ATRX和ATMDS综合症。因此,反式作用因子也逐步引起科学界的注意。现对影响α及β珠蛋白基因表达的顺式元件和反式作用因子及特定的基因突变模式作一概述。

Thalassemia is one of the most commonly known inherited disorders in human which is originated in Mediterranean area and south-east Asia.It is widely accepted that the cis-elements within the α and β gene cluster are responsible for regulating the expression of both genes thus α and β thalassemia.In the past decade,some rare mutations outside of either α or β gene causing thalassemia were reported,such as ATRX and ATMDS syndromes which draw the scientific attention to the trans-acting factors beyond the canonical view.In this review,we are introducing the recent findings for α and β globin genes regulation in molecular level in both cis and trans aspects.