RESEARCH ON GENETIC POLYMORPHISMS OF SHORT TANDEM REPEATS (STRs) LINKED TO THE PKD1 GENE ASSOCIATED WITH POLYCYSTIC KIDNEY DISEASE
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Abstract
Objectives: To assess genetic polymorphism of several short tandem repeats (STRs) linked to the PKD1 gene associated with polycystic kidney disease in order to identify highly informative STRs for linkage analysis, to mitigate the risk of allele-dropout (ADO), and to support the diagnosis and genetic counseling of autosomal dominant polycystic kidney disease (ADPKD). Methods: A descriptive cross-sectional study was conducted using 100 randomly collected peripheral blood samples from 100 students in the 2nd and 4th cohorts of the Military Medical University. 7 STR loci linked to the PKD1 gene (D16S475, D16S3082, D16S283, D16S663, D16S291, D16S3252, D16S521) were analyzed. Allele size was determined via capillary electrophoresis. Results: The 7 STR loci linked to the PKD1 gene in Vietnamese individuals had expected heterozygosity indices (He) ranging from 0,42 to 0,89; and polymorphic information content (PIC) values ranging from 0,34 to 0,88. Conclusion: 4 highly informative STRs, including D16S475, D16S3082, D16S663, and D16S291, demonstrate their value in the genetic diagnosis of autosomal dominant polycystic kidney disease in Vietnamese individuals.
Keywords
Autosomal dominant polycystic kidney disease, PKD1 gene, Genetic polymorphism, Short tandem repeats (STRs)
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References
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