title: Evaluation of a genetic test for diagnose of primary hypolactasia in northeast of iran (khorasan).
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  RESULTS
  In 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).
  
  
  CONCLUSIONS
  Based 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.
authors: Departmant of Human Genetic, Mashhad University of Medical Sciences, Mashhad, Iran.
authors: Maryam
authors: M
authors: Alizadeh
authors: Ariane
authors: A
authors: Sadr-Nabavi
keywords: Hypolactasia; Iranian Population; LPH
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