SCREENING FOR GENETIC MUTATIONS IN LDLR GENE WITH FAMILIAL HYPERCHOLESTEROLEMIA IN THE MONGOLIAN POPULATION

Abstract Objective: The objective of this study was to characterize LDLR (low density lipoprotein receptor) gene mutation in patients with familial hypercholesterolemia. Design and method: Methods: This cross-sectional study was included subjects aged from 20 to 64 years, with a clinical diagnosis of familial hypercholesterolemia. Clinical diagnosis of familial hypercholesterolemia was based on Dutch Lipid Clinic Network diagnostic criteria. Possible and probable familial hypercholesterolemia were defined as a total score was 3–5 and 6–8 points. Ten ml of venous blood samples were collected from all the subjects and used for biochemical and genetic analysis. Deoxyribonucleic acid was isolated from peripheral blood samples and precise primers were designed for LDLR gene which includes 18 exons. Polymerize chain reaction test was followed by deoxyribonucleic acid sequence analysis. Results: Results: A total of 89 subjects included in the study of which, 32 (36%) were men and 57 (64%) were women. The mean age of the participants was 46.5 ± 7.8 years. In our study, we found the following 3 LDLR mutations: S265R mutation in Exon-6, C308Y mutation Exon-8 and V502 M mutation in Exon-10. Conclusions: Conclusion: This was the first study to identify genetic mutations in LDLR gene in Mongolia. We conclude that screening of family hypercholesterolemia among the Mongolian population is very important to identify individuals who are prone to develop the atherosclerotic cardiovascular disease.