《科学》[Science]13年10月11日出版pdf全文

孙弘博

False-colored scanning electron micrograph of erythrocytes
* x0 ?% G4 r# T(diameter ~7 micrometers). Sickle cell disease results from an
0 n' E% w& N  O! c6 g$ N- ?! Minherited defect of adult hemoglobin, the oxygen-carrying0 V" Y* [3 N, k, K
metalloprotein constituent of erythrocytes. Common genetic variation
' ?8 _+ i9 y$ B2 _6 nassociated with sickle cell disease severity modulates an adult-stage
3 q' [  x1 K' r( Lerythroid enhancer element of the BCL11A gene. Disruption of this
" ~& B0 U$ {  i" F' b. yelement could ameliorate the disease by reestablishing expression
. [7 i8 k" B( W  E5 d8 ^: rof fetal hemoglobin. See pages 206 and 253.( ]. T" d6 f+ r8 U" R% v! ]
) A$ e4 i& r6 e/ o+ [, L

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