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Genetics of the P2X7 receptor and human disease

机译:P2X7受体与人类疾病的遗传

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摘要

The P2RX7 gene is highly polymorphic, and many single nucleotide polymorphisms (SNPs) underlie the wide variation observed in P2X7 receptor responses. We review the discovery of those non-synonymous SNPs that affect receptor function and compare their frequencies in different ethnic populations. Analysis of pairwise linkage disequilibrium (LD) predicts a limited range of haplotypes. The strong LD between certain functional SNPs provides insight into published studies of the association between SNPs and human disease.
机译:P2RX7基因是高度多态的,并且许多单核苷酸多态性(SNP)是P2X7受体反应中观察到的广泛变异的基础。我们回顾了那些影响受体功能的非同义SNP的发现,并比较了它们在不同种族人群中的发生频率。成对连锁不平衡(LD)的分析预测单倍型的范围有限。某些功能性SNP之间的强LD有助于深入研究已发表的SNP与人类疾病之间关系的研究。

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