《科学》[Science]13年10月11日出版pdf全文

孙弘博

False-colored scanning electron micrograph of erythrocytes  W/ }8 v5 v( @1 B6 K- T
(diameter ~7 micrometers). Sickle cell disease results from an
/ v" p. \* t$ D  v! V4 O$ }9 sinherited defect of adult hemoglobin, the oxygen-carrying6 K& K' i* ?* I* }1 l
metalloprotein constituent of erythrocytes. Common genetic variation
( E* S% C' E! j3 _  F5 n' k) P9 e, Massociated with sickle cell disease severity modulates an adult-stage
2 y$ A% W; |2 L% g# |erythroid enhancer element of the BCL11A gene. Disruption of this) }8 A8 ?# D' n- s4 m+ Y
element could ameliorate the disease by reestablishing expression% o* g" ?5 D( C3 m
of fetal hemoglobin. See pages 206 and 253.. i# k8 g- W7 a" M" `' r
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