Evaluation of a Genetic Test for Diagnose of Primary Hypolactasia in Northeast of Iran (Khorasan)

Alizadeh, Maryam and Sadr-Nabavi, Ariane (2012) Evaluation of a Genetic Test for Diagnose of Primary Hypolactasia in Northeast of Iran (Khorasan). Iranian Journal of Basic Medical Sciences, 15 (6). pp. 1127-1130.

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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.

Item Type: Article
Subjects: QU Biochemistry
Divisions: Journals > Iranian J Basic Medical Sciences
Depositing User: ijbms ijbms
Date Deposited: 23 Oct 2017 17:34
Last Modified: 23 Oct 2017 17:34
URI: http://eprints.mums.ac.ir/id/eprint/8332

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