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Updated: Oct 20, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Development of a novel SNP assay to detect lactase persistence associated genetic variants
Pasquale De Luca1, Daniela Iaconis2, Elio Biffali2
1Department of Research Infrastructures for Marine Biological Resources (RIMAR), Sequencing and Molecular Analyses Center, Stazione Zoologica Anton Dohrn, Villa Comunale, 80121, Naples, Italy. pasquale.deluca@szn.it.
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.
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