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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Hardy–Weinberg disequilibrium and association study of insertion/deletion polymorphism of ACE gene and Alzheimer’s disease in Egyptian patients
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Hardy–Weinberg disequilibrium and association study of insertion/deletion polymorphism of ACE gene and Alzheimer’s disease in Egyptian patients

机译：埃及患者中ACE基因的插入/缺失多态性与阿尔茨海默氏病的Hardy-Weinberg不平衡及其关联研究

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We thank Dr Saadat’s letter to the editor [1] for his critical remarks on our study. To clarify, Dr. Saadat raised concerns with respect to genotyping errors based on the observed deviation from Hardy–Weinberg equilibrium for this particular polymorphism in our trial. Genotyping error is indeed one of the many possible sources of Hardy–Weinberg disequilibrium. To exclude this possibility and because the D allele in heterozygous samples is preferentially amplified, as reported in our publication [2], each sample that found to have the DD genotype was subjected to a second, independent PCR amplification with a primer pair that recognizes an insertion-specific sequence, with identical PCR conditions except for an annealing temperature of 67 °C. The reaction yields a 335-bp amplicon only in the presence of an I allele and no product in samples homozygous for DD. This procedure correctly identified samples with the DI genotype that are misclassified as DD with the insertion-spanning primers, which we concern it as an insuring test of our results.
机译：我们感谢Saadat博士给编辑的信[1]，感谢他对我们研究的批评。为了明确起见，Saadat博士基于观察到的针对该特定多态性的Hardy-Weinberg平衡偏差，对基因分型错误提出了关注。基因分型错误的确是哈迪-温伯格失衡的众多可能原因之一。为了排除这种可能性，并且由于杂合子样品中的D等位基因被优先扩增，如我们的出版物[2]所述，每个发现具有DD基因型的样品都要进行第二次独立的PCR扩增，其引物对应识别插入特异性序列，具有相同的PCR条件，但退火温度为67°C。该反应仅在I等位基因的存在下产生335 bp的扩增子，并且对于DD纯合的样品中没有产物。此程序正确识别了带有DI基因型的样品，这些样品被跨跨引物误分类为DD，我们将其视为对我们结果的保证测试。

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