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首页> 外文期刊>Genomics >Human defensin gene copy number polymorphisms: comprehensive analysis of independent variation in alpha- and beta-defensin regions at 8p22-p23.
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Human defensin gene copy number polymorphisms: comprehensive analysis of independent variation in alpha- and beta-defensin regions at 8p22-p23.

机译：人类防御素基因拷贝数多态性：对8p22-p23处的α-防御素和β-防御素区域的独立变异的全面分析。

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摘要

To investigate defensin gene copy number polymorphisms, a quantitative real-time PCR assay was developed and used to study DNA from 27 unrelated individuals of diverse ethnic and racial backgrounds. The DEFB4 and DEFB103A genes varied in tandem, with copy numbers 2 to 8, with a mode of 6 per diploid genome (PDG). The combined copy numbers of the DEFA1 and DEFA3 genes ranged from 5 to 14, with a mode of 10 copies PDG. The copy numbers of the DEFA1/3 genes varied independently of those of the DEFB4 and DEFB103A genes. The amount of HNP-1 and HNP-3 peptides expressed in neutrophils was found to be proportional to the combined copy number of DEFA1 and DEFA3. The DEFA3 allele was absent in 7/27 subjects. The highly copy-number-variable DEFA1 and DEFA3 genes are flanked by other defensin genes present uniformly at 2 copies PDG. The remarkable variability in defensin gene copy numbers could contribute to differences in individual resistance to infections.
机译：为了研究防御素基因拷贝数多态性，开发了定量实时PCR分析法，并用于研究来自不同种族和种族背景的27个无关个体的DNA。 DEFB4和DEFB103A基因串联变化，拷贝数为2至8，每个二倍体基因组（PDG）的模式为6。 DEFA1和DEFA3基因的组合拷贝数为5到14，PDG为10拷贝。 DEFA1 / 3基因的拷贝数独立于DEFB4和DEFB103A基因的拷贝数而变化。发现嗜中性粒细胞中表达的HNP-1和HNP-3肽的数量与DEFA1和DEFA3的合并拷贝数成正比。在7/27个受试者中不存在DEFA3等位基因。拷贝数高度可变的DEFA1和DEFA3基因位于其他均以2个拷贝PDG存在的防御素基因的侧面。防御素基因拷贝数的显着变化可能会导致个体对感染的抵抗力差异。

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