@article { author = {Alizadeh, Maryam and Sadr-Nabavi, Ariane}, title = {Evaluation of a Genetic Test for Diagnose of Primary Hypolactasia in Northeast of Iran (Khorasan)}, journal = {Iranian Journal of Basic Medical Sciences}, volume = {15}, number = {6}, pages = {1127-1130}, year = {2012}, publisher = {Mashhad University of Medical Sciences}, issn = {2008-3866}, eissn = {2008-3874}, doi = {10.22038/ijbms.2012.4930}, abstract = {Objective(s) Primary or adult type hypolactasia, the most common enzyme deficiency in the world, is due to reduced lactase activity in the intestinal cell after weaning. Lactase non-persistence is inherited as an autosomal recessive trait. A DNA variant, single nucleotide polymorphism C/T−13910 which is located on 13910 base pairs (bp) upstream of the lactase gene (LCT) at chromosome 2 has been show to associate with the lactase persistence/non-persistence. The prevalence of the C/T-13910 variant is different for hypolactasia in European, Asian, African-American and Northern African populations. In this study, we investigated, for the first time the allele frequent of the single nucleotide polymorphism C/T−13910 in the Iranian population in khorasan province with hypolactasia. Materials and Methods Peripheral blood was collected from 100 subjecs with primary hypolactasia and 100 healthy individuals as a control group. Genomic DNA was extracted. The genotype was analyzed with the PCR-RFLP method. A statistical analysis was performed by chi-square test using SPSS software. A P-value of <0.05 was considered statistically significant.ResultsIn case group allelic frequency for SNP T-13910C (C, T) was respectively 95%, 5% vs. control group 86% and 14%. Genotype frequency (CC, CT, TT) in patient group was 90%, 10%, 0% vs. control group 74%, 24% and 2%. So according to our findings, there were significant differences between allelic frequencies (P=0.03), and in genotype frequency between case and control groups (P=0.006).ConclusionBased on our results, analysis of C\T-13910 polymorphism can be used as a simple genetic test for diagnosis of primary type hypolactasia in the Iranian population.}, keywords = {Hypolactasia,Iranian Population,LPH}, url = {https://ijbms.mums.ac.ir/article_4930.html}, eprint = {https://ijbms.mums.ac.ir/article_4930_e65e9f7daf615a285c09d3bb61de65bc.pdf} }