Bagot Sébastien, Campino Susana, Penha-Gonçalves Carlos, Pied Sylviane, Cazenave Pierre-André, Holmberg Dan
Unité Immunophysiopathologie Infectieuse, Institut Pasteur, Centre National de la Recherche Scientifique, Unité de Recherche Associée 1961, and Université Pierre et Marie Curie, 75005 Paris, France.
Proc Natl Acad Sci U S A. 2002 Jul 23;99(15):9919-23. doi: 10.1073/pnas.152215199. Epub 2002 Jul 11.
Malaria is a complex infectious disease in which the host/parasite interaction is strongly influenced by host genetic factors. The consequences of plasmodial infections range from asymptomatic to severe complications like the neurological syndrome cerebral malaria induced by Plasmodium falciparum in humans and Plasmodium berghei ANKA in rodents. Mice infected with P. berghei ANKA show marked differences in disease manifestation and either die from experimental cerebral malaria (ECM) or from hemolytic anemia caused by hyperparasitemia (HP). A majority of laboratory mouse strains so far investigated are susceptible to ECM; however, a number of wild-derived inbred strains show resistance. To evaluate the genetic basis of this difference, we crossed a uniquely ECM-resistant, wild-derived inbred strain (WLA) with an ECM susceptible laboratory strain (C57BL/6J). All of the (WLA x C57BL/6J) F(1) and 97% of the F(2) progeny displayed ECM resistance similar to the WLA strain. To screen for loci contributing to ECM resistance, we analyzed a cohort of mice backcrossed to the C57BL/6J parental strain. A genome wide screening of this cohort provided significant linkage of ECM resistance to marker loci in two genetic regions on chromosome 1 (chi(2) = 18.98, P = 1.3 x 10(-5)) and on chromosome 11 (chi(2) = 16.51, P = 4.8 x 10(-5)), being designated Berr1 and Berr2, respectively. These data provide the first evidence of loci associated with resistance to murine cerebral malaria, which may have important implications for the search for genetic factors controlling cerebral malaria in humans.
疟疾是一种复杂的传染病,宿主与寄生虫之间的相互作用受到宿主遗传因素的强烈影响。疟原虫感染的后果从无症状到严重并发症不等,如人类中由恶性疟原虫以及啮齿动物中由伯氏疟原虫ANKA株引起的神经综合征——脑型疟疾。感染伯氏疟原虫ANKA的小鼠在疾病表现上存在显著差异,要么死于实验性脑型疟疾(ECM),要么死于高疟原虫血症(HP)引起的溶血性贫血。到目前为止,大多数被研究的实验室小鼠品系对ECM敏感;然而,一些野生来源的近交系表现出抗性。为了评估这种差异的遗传基础,我们将一种独特的对ECM有抗性的野生来源近交系(WLA)与一种对ECM敏感的实验室品系(C57BL/6J)进行杂交。所有的(WLA×C57BL/6J)F1代和97%的F2代后代都表现出与WLA品系相似的ECM抗性。为了筛选出有助于ECM抗性的基因座,我们分析了一组回交至C57BL/6J亲本品系的小鼠。对这组小鼠进行全基因组筛选,结果表明ECM抗性与1号染色体上两个遗传区域(χ2 = 18.98,P = 1.3×10−5)以及11号染色体上的标记基因座(χ2 = 16.51,P = 4.8×10−5)存在显著连锁,分别命名为Berr1和Berr2。这些数据首次证明了与小鼠脑型疟疾抗性相关的基因座,这可能对寻找控制人类脑型疟疾的遗传因素具有重要意义。