Evaluation of a genetic test for diagnose of primary hypolactasia in northeast of iran (khorasan).

Abstract:

OBJECTIVES: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. 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). CONCLUSION: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.

journal_name

Iran J Basic Med Sci

authors

Alizadeh M,Sadr-Nabavi A

subject

Has Abstract

pub_date

2012-11-01 00:00:00

pages

1127-30

issue

6

eissn

2008-3866

issn

2008-3874

journal_volume

15

pub_type

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