《科学》[Science]13年10月11日出版pdf全文

孙弘博

False-colored scanning electron micrograph of erythrocytes
/ J2 c8 r% a+ |3 x9 _: Y2 U(diameter ~7 micrometers). Sickle cell disease results from an
* u; a. k  G; ]/ \0 Y% {inherited defect of adult hemoglobin, the oxygen-carrying9 a: l; z- p- D, B. u6 f0 H' `0 B
metalloprotein constituent of erythrocytes. Common genetic variation) X  W; b0 c, J5 Z. c
associated with sickle cell disease severity modulates an adult-stage4 b2 D' a4 M& J& F* }6 }
erythroid enhancer element of the BCL11A gene. Disruption of this
: y( d' x, V7 ]3 Xelement could ameliorate the disease by reestablishing expression( N+ L: A# r6 i) q2 q8 `( G
of fetal hemoglobin. See pages 206 and 253.2 a! J' k/ Q3 Z$ ~5 L2 X: y2 z0 Z
+ ^+ a7 Y* X+ R8 n

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