Genetic analysis of Iranian autosomal dominant polycystic kidney disease: new insight to haplotype analysis.

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Article

Genetic analysis of Iranian autosomal dominant polycystic kidney disease: new insight to haplotype analysis.

Cellular and molecular biology (Noisy-le-Grand, France) - 4 Feb 2016

Entezam M, Khatami M R, Saddadi F, Ayati M, Roozbeh J, Saghafi H, Keramatipour M

Abstract excerpt

Autosomal Dominant Polycystic Kidney Disease (ADPKD) caused by mutations in two PKD1 and PKD2 genes. Due to the complexity of the PKD1 gene, its direct mutation screening is an expensive and time-consuming procedure. Pedigree-based haplotype analysis is a useful indirect approach to identify the responsible gene in families with multiple affected individuals, before direct mutation analysis. Here, we applied this...

Topics

Alleles
Asian People
DNA Mutational Analysis
Female
Gene Frequency
Genetic Counseling
Genetic Linkage
Haplotypes
Humans
Iran
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Microsatellite Repeats

Multiplex Polymerase Chain Reaction

Pedigree

Phenotype

Polycystic Kidney, Autosomal Dominant

Polymorphism, Single Nucleotide

TRPP Cation Channels

Source

Open in PubMed

Identifiers

PMID: 26950445

Genes

PKD1
PKD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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