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Cell Journal، جلد ۱۳، شماره Supplement، صفحات ۰-۰
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عنوان انگلیسی O-3: Validation of a Genetic Test for Diagnosis of Primary Hypolactasia in Mashhad-Iran
چکیده انگلیسی مقاله Objective: Primary hypolactasia is the physiological decline of lactase after weaning that is the most common enzyme deficiency in human. Hypolactasia is an autosomal recessive condition. Symptoms of lactose intolerance may overlap with other gastrointestinal diseases. A DNA-variant, LCT-13910C>T polymorphism located upstream of the lactase gene at chromosome 2q21-22 has been shown to associate with the lactase persistence/non-persistence trait. The C/C-13910 genotype associated with lactase non-persistence. The aim of this study was validate of a genetic test for diagnosis of primary hypolactasia in Iranian patients. Materials and Methods: Blood samples of 50 patients and 50 healthy individuals were collected. DNA was extracted from leukocytes; LCT-13910C>T polymorphism was analyzed by PCR-RFLP. Oral Presentations Results: In patient group allelic frequency for SNP T-13910C (C, T) respectively was 91%, 9% vs. control group 81%, 19%. Genotype frequency (CC, CT, TT) was 82%, 18%, 0% vs. control group 66%, 30%, 4%. So according to our findings, there were significant association between allelic frequencies (p=0.042), and also there were significant differences in genotype frequency between patient and control groups (p=0.013). Conclusion: In this study frequency of C allele that is associated with lactose intolerance was significantly higher in patient group compared with control group (p=0.042). There were significant difference in CC genotype between patient and control groups (p=0.013). Based on these data, analysis of CT-13910 polymorphism can be used as the first stage screening and diagnostic test for primary hypolactasia in our population.
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نشانی اینترنتی http://celljournal.org/journal/article/abstract/1511
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