A complement receptor-1 polymorphism with high frequency in malaria endemic regions of Asia but not Africa.
A complement receptor-1 polymorphism with high frequency in malaria endemic regions of Asia but not Africa.
复制标题
补体受体 1 多态性在亚洲疟疾流行区（而非非洲）中出现频率较高。
DOI：
10.1038/sj.gene.6364150
复制
发表时间：
2005
影响因子：
5
通讯作者：
Moulds,JM
中科院分区：
文献类型：
--
作者：
Thomas,BN;Donvito,B;Cockburn,I;Fandeur,T;Rowe,JA;Cohen,JHM;Moulds,JM
补体受体-1（CR 1）是玫瑰花结形成的配体，这是一种与脑型疟疾（CM）相关的现象。结合依赖于红细胞CR 1拷贝数。在高加索人中，低CR 1表达者有两个连锁突变。我们确定了Q981 H和HindIII RFLP在不同人群中的分布，以确定在适应性进化中可能发挥的作用。我们检查了194名白人，180名乔托印第安人，93名中国台湾人，304名巴布亚人，89名巴布亚新几内亚人和366名非洲人。PCR/RFLP使用HindIII用于CR 1表达，BstNI用于Q981 H突变。进行DNA测序和焦磷酸测序以解决不确定的结果。L等位基因的基因频率在非洲人中为0.15，在乔克托人中为0.16，在高加索人中为0.18，在中国台湾人中为0.29，在印度尼西亚人中为0.47，在巴布亚新几内亚人中为0.58。981 H的等位基因频率在非洲人中为0.07，在高加索人中为0.15，在乔克托人中为0.18，在中国台湾人中为0.29，在印度尼西亚人中为0.47，在巴布亚新几内亚人中为0.54。Q981 H多态性与HindIII RFLP在大多数组，除了西非人，似乎是一个低CR 1表达单倍型的一部分。该单倍型的基因频率在亚洲疟疾流行地区最高，这表明该单倍型可能已经进化，因为它保护玫瑰花结和CM。
Complement receptor-1 (CR1) is a ligand for rosette formation, a phenomenon associated with cerebral malaria (CM). Binding is dependent on erythrocyte CR1 copy number. In Caucasians, low CR1 expressors have two linked mutations. We determined the Q981H and HindIII RFLP distribution in differing population groups to ascertain a possible role in adaptive evolution. We examined 194 Caucasians, 180 Choctaw Indians, 93 Chinese-Taiwanese, 304 Cambodians, 89 Papua New Guineans (PNG) and 366 Africans. PCR/RFLP used HindIII for CR1 expression and BstNI for the Q981H mutation. DNA sequencing and pyrosequencing were performed to resolve inconclusive results. Gene frequencies for the L allele were 0.15 in Africans, 0.16 in Choctaws, 0.18 in Caucasians, 0.29 in Chinese-Taiwanese, 0.47 in Cambodians and 0.58 in PNG. Allelic frequency for 981H were 0.07 in Africans, 0.15 in Caucasians, 0.18 in Choctaws, 0.29 in Chinese-Taiwanese, 0.47 in Cambodians and 0.54 in PNG. The Q981H polymorphism correlates with the HindIII RFLP in most groups except West Africans and appears to be part of a low CR1 expression haplotype. The gene frequency for the haplotype is highest in the malaria-endemic areas of Asia, suggesting that this haplotype may have evolved because it protects from rosetting and CM.