Exon sequencing of PKD1 gene in an Iranian patient with autosomal-dominant polycystic kidney disease.
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 an important allelic variability among patients, but very few data are known about the genetic variation among Iranian populations.



In this study, exon direct sequencing of PKD1 was performed in a seven-year old boy with ADPKD and in his parents. The patient's father was ADPKD who was affected without any kidney dysfunction, and the patient's mother was congenitally missing one kidney.



Molecular genetic testing found a mutation in all three members of this family. It was a missense mutation GTG>ATG at position 3057 in exon 25 of PKD1. On the other hand, two novel missense mutations were reported just in the 7-year-old boy: ACA>GCA found in exon 15 at codon 2241 and CAC>AAC found in exon 38 at codon 3710. For checking the pathogenicity of these mutations, exons 15, 25, and 38 of 50 unrelated normal cases were sequenced.



our findings suggested that GTG>ATG is a polymorphism with high frequency (60%) as well as ACA>GCA and CAC>AAC are polymorphisms with frequencies of 14% and 22%, respectively in the population of Southwest Iran.
Dept. of Genetics, Faculty of Science, Shahid Chamran University, Ahvaz, Iran.
Atousa
A
Hafizi
Dept. of Genetics, Faculty of Science, Shahid Chamran University, Ahvaz, Iran.
Saeid Reza
SR
Khatami
Dept. of Genetics, Faculty of Science, Shahid Chamran University, Ahvaz, Iran.
Hamid
H
Galehdari
Narges Medical Genetic Laboratory, Ahvaz, Iran.|Dept. of Medical Genetics, Jundishapur University of Medical Science, Ahvaz, Iran.
Gholamreza
G
Shariati
Narges Medical Genetic Laboratory, Ahvaz, Iran.|Dept. of Medical Genetics, Jundishapur University of Medical Science, Ahvaz, Iran.
Ali Hossein
AH
Saberi
Research Center of Biotechnology, Pasteur Institute of Iran, Tehran, Iran.
Mohammad
M
Hamid
D000328:Adult; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D004587:Electrophoresis, Agar Gel; D005091:Exons / Q000235:genetics*; D005190:Family; D005260:Female; D006579:Heterozygote; D006801:Humans; D007492:Iran; D008297:Male; D008958:Models, Molecular; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D017434:Protein Structure, Tertiary; D050396:TRPP Cation Channels / Q000737:chemistry / Q000235:genetics*
D050396:TRPP Cation Channels
Autosomal dominant polycystic kidney disease; Polycystic kidney diseases; PKD1 gene; Iran