exon sequencing of pkd1 gene in an iranian patient with autosomal-dominant polycystic kidney disease

Exon Sequencing of PKD1 Gene in an Iranian Patient with Autosomal-Dominant Polycystic Kidney Disease

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. ADPKD is genetically heterogeneous with two genes identified: PKD1 (16p13.3, 46 exons) and PKD2 (4q21, 15 exons). Eighty five percent of the patients with ADPKD have at least one mutation in the PKD1 gene. Genetic studies have demonstrate...

Exon Sequencing of PKD1 Gene in an Iranian Patient with Autosomal-Dominant Polycystic Kidney Disease

INTRODUCTION Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. ADPKD is genetically heterogeneous with two genes identified: PKD1 (16p13.3, 46 exons) and PKD2 (4q21, 15 exons). Eighty five percent of the patients with ADPKD have at least one mutation in the PKD1 gene. Genetic studies have demonstrated...

A Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease

                 

a novel pkd1 mutation in a patient with autosomal dominant polycystic kidney disease

A Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease

∗ Corresponding author: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Email: [email protected] eporting novel mutations in genes related to human disorders along with their clinical complications can help prenatal diagnosis of the diseases through molecular genetic tests and also make it possible to predict the prognosis of...

Mutational analysis of PKD1 gene in a Chinese family with autosomal dominant polycystic kidney disease.

Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary disease and common renal disease. Mutations of PKD genes are responsible for this disease. We analyzed a large Chinese family with ADPKD using Sanger sequencing to identify the mutation responsible for this disease. The family comprised 27 individuals including 10 ADPKD patients. These ADPKD patients had severe renal disease a...