1、HEREDITAS (Beijing) 2009 M 10 , 31(10): 993998 ISSN 0253-9772 综 述 收稿日期 : 20090402; 修回日期 : 20090603 基金项目 : SE1 S “ (I| 30830029, 30800177)ov S9p 5s “ (I| : 2007CB914601) 作者简介 : W (1982), o, p V 3 , 2b 994 HEREDITAS (Beijing) 2009 31 1.2 p53 G MDM2 ? 7 , p53 / mdm2yl 91? ? , OvS % ? ?3; 6 , 7% ? p53
2、y7mdm2s 94, ?#F Xk 40 mdm2 g8 , 7 v c p53 u , V MDM2y?iG p53 o5bBt a% # ? MDM2 ip53 s0b 1.2.1 基因组稳定性调控 DNA 8 M/R/N(Mre11/Rad50/Nbs1) DNA a% _S#1 3 V , yF , Vr /yFF , P0? 36b DNA y O/ , M/R/N8“ ATM DNA , P ATM 1(2) MDM2W ; (3)E p53-MDM243b 9 0r o XkBt MDM2-p53 MTls04b , Nutlin3 MI219 ? E p53 MDM21o+
3、, MDM2 +s T , r MDM2 p53 p53, V7%a ? 3bNutlin3 MI219 “ - Vr7 3 p53 K -ls0043, 44b 7 W % eaDNA a% 3 fQ|Y ?1T , W W Vs ? 3 MM1b , W % MY+s , W “dK1o , yNW # ? e W aW “d y7 %h 图 1 MDM2 调控网络示意图 10 W : W MDM2# eZ 997 1ilb7 MDM2 T “ ? 3W 8“d1 , P M10? -SB , M = MDM2# e | M1 5 Bb 参考文献 (References): 1 Kubbu
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28、er Res, 2004, 2(1): 2028. 44 Shangary S, Wang S. Small-molecule inhibitors of the MDM2-p53 protein-protein interaction to reactivate p53 function: a novel approach for cancer therapy. Annu Rev Pharmacol Toxicol, 2009, 49: 223241. 遗传咨询 棘红细胞增多症的遗传方式 问：我的外公外婆身体健康，向上追溯三代身体都健康，他们的兄弟姐妹身体也很健康，但是他们的五个孩子有3个患了棘红细胞增多症，我想咨询一下，该病是怎样的遗传方式？是否可以做基因检测？ s %9 (Acanthocytosis)VCCv % , 1 s% M , M , ? 3 , - C -bs *hM , a hu , Shb , hL.Z T“ , 8 L.a 8AL. X L. , 8 L.KnbM1hy , MTPaAPOB VPS13AsY 4q22-q24a2p24 9q21bh VMy_ , lML.Z Tb (S SL. ? 3 张喆a )
