Development of a novel SNP assay to detect lactase persistence associated genetic variants

开发一种新型 SNP 检测方法来检测乳糖酶持久性相关的遗传变异

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作者:Pasquale De Luca, Daniela Iaconis, Elio Biffali, Coluccia Enza, Laura de Magistris, Gabriele Riegler, Diego Pappalardo, Maria Rosaria Amato, Patrizia Iardino, Concetta Montanino, Bruna De Felice

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.

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.

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.

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