Genetic analysis links the diagnosis of carriers of the PKD1 mutation gene that causes polycystic kidney disease

Abstract

Polycystic kidney disease (PKD) is an inherited disorder characterised by the formation and growth of multiple cysts in the kidney, accompanied by a gradual increase in the size of both kidneys leading to impaired kidney function and renal failure. Autosomal dominant PKD is the most common genetic disorder with an estimated prevalence of 1/500-1/1000 in Western countries [1], caused by mutations in the PKD1 (MIM#601313) and PKD2 (MIM#173910), of which 85% of cases are caused by mutations in the PKD1 gene [2]. Because of the PKD1gene’s enormous size, numerous mutations, and up to 6 structural pseudogenes, which share a high degree of similarity sequences (97.7%) from the 5’UTR to exon 32 [3, 4], the methods for identifying PKD1 mutations are currently restricted and challenging from amplifying the mutant gene area. Therefore, it is essential to create a novel diagnostic technique with high accuracy and broad applicability for various mutation types that may circumvent the shortcomings of the conventional method. Objective: To develop a genetic linkage analysis technique for detecting the person with PKD1 mutation causing PKD. Materials and methods: 11 members were from a family with PKD1 gene mutations causing PKD. Designed PKD1 gene-linked STRs primers and conducted genetic linkage analysis with the family members. After comparing the outcomes of the technique with those of the Touchdown-PCR and ARMS-PCR methods, the complete technique is subsequently given. Results: Successfully developed the genetic linkage analysis technique for detecting the person with PKD1mutation causing PKD.