《科学》[Science]13年10月11日出版pdf全文

孙弘博

False-colored scanning electron micrograph of erythrocytes
, ~5 R: ]: N, f(diameter ~7 micrometers). Sickle cell disease results from an+ ]8 j( L" \" F" W. h
inherited defect of adult hemoglobin, the oxygen-carrying
5 F9 N6 z3 p& A  e4 Mmetalloprotein constituent of erythrocytes. Common genetic variation, I0 R; n8 ?: Q0 G1 d" \' \
associated with sickle cell disease severity modulates an adult-stage0 ^. Q% ~! I5 i
erythroid enhancer element of the BCL11A gene. Disruption of this2 N2 Q5 e9 {* L
element could ameliorate the disease by reestablishing expression
9 f0 Q4 h5 M) u  @1 i2 ~  Bof fetal hemoglobin. See pages 206 and 253.% h: [2 y3 h3 e4 M2 I0 j8 E

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