Background

In adulthood the activity of the lactase enzyme is inherited as autosomal dominant form associated to Single nucleotide polymorphisms (SNPs). The present research was aimed to develop a novel genetic method to test lactase non persistence more powerfully.

Methods and results

In our study, we selected eight different SNPs that are associated with lactase persistence from Caucasian, Arabian Bedouins, sub-Saharian Africans and Asian populations to set up an approach to detect all the eight different SNPs at the same time in the same sample. This technique is centred on the identification of SNPs with a single nucleotide primer extension method using Sanger sequencing and capillary electrophoresis.

Conclusions

Our method allowed us to check the genotype asset of eight SNPs related to lactase persistence simultaneously and in a very efficient manner. It could be applied to a higher number of SNPs in a single reaction.

中文翻译：

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开发一种新的 SNP 检测方法以检测乳糖酶持久性相关的遗传变异

背景

在成年期，乳糖酶的活性作为与单核苷酸多态性 (SNP) 相关的常染色体显性遗传形式遗传。本研究旨在开发一种新的遗传方法来更有效地测试乳糖酶的非持久性。

方法和结果

在我们的研究中，我们从高加索人、阿拉伯贝都因人、撒哈拉以南非洲人和亚洲人群中选择了八种与乳糖酶持久性相关的不同 SNP，以建立一种在同一样本中同时检测所有八种不同 SNP 的方法。该技术的中心是通过使用 Sanger 测序和毛细管电泳的单核苷酸引物延伸方法鉴定 SNP。

结论

我们的方法使我们能够以非常有效的方式同时检查与乳糖酶持久性相关的八个 SNP 的基因型资产。它可以在单个反应中应用于更多数量的 SNP。