Genetic studies of autosomal dominant polycystic kidney disease in India

An overview of the project I worked with the Ph.D. scholar, providing research assistance thoroughly.

ADPKD is a genetically heterogeneous condition with interfamilial and intrafamilial variability. There has been no specific ongoing research in India. Therefore, the study has been conducted to perform mutational analysis of PKD1 and PKD2 genes among 125 ADPKD probands and study the association between eNOS (endothelial nitric oxide synthase) and VEGF (vascular endothelial growth factor) gene polymorphism and clinical phenotype. Also, screen the mutations in miRNA1225 located within the intron 45 of PKD1 gene and correlated with phenotype to evaluate the diagnostic utility of intragenic polymorphism for linkage studies in India, and to form the national foundation for PKD probands to help them get registered and interact with specialist and support groups.      

    

  

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