《科学》[Science]13年10月11日出版pdf全文

孙弘博

False-colored scanning electron micrograph of erythrocytes- J1 V7 r4 j  l! @& E7 C; q' D$ A
(diameter ~7 micrometers). Sickle cell disease results from an
% ~  I0 D. Y5 d( m0 N7 U4 d  ?inherited defect of adult hemoglobin, the oxygen-carrying6 ]9 }2 P) E" h# a
metalloprotein constituent of erythrocytes. Common genetic variation
! c# J& q0 e  W/ n0 c$ t3 `0 Hassociated with sickle cell disease severity modulates an adult-stage
. \* M( ^& W% |! }& Ierythroid enhancer element of the BCL11A gene. Disruption of this$ N3 m  s/ R8 |! E4 N4 K
element could ameliorate the disease by reestablishing expression0 A# c9 w3 y" \' K( G
of fetal hemoglobin. See pages 206 and 253.
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