ArticleReports of biochemistry & molecular biology2019
Examining the Role of Polymorphisms in Exon 25 of the
Article in Reports of biochemistry & molecular biology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- Non-canonical DNA structures: Diversity and disease association.Frontiers in genetics · 2022Review
- Methylation of theReports of biochemistry & molecular biology · 2020Article
- Identification of Novel PathogenicReports of biochemistry & molecular biology · 2020Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAutosomal dominant polycystic kidney disease (ADPKD) is a highly prevalent life-threatening monogenic disorder with high morbidity and mortality. Roughly 1:400-1000 individuals are affected with this disease worldwide. The development of ADPKD is largely attributed to mutations in the polycystic kidney disease
methodsThe genomic DNA of 36 Iranian patients with ADPKD was isolated using the standard salting out method. The PCR products were directly sequenced and analyzed.
resultsThe frequencies of CAG>GAG, ATG>GTG, GTC>GTA, and GTG>ATG polymorphisms in exon 25 of the PKD1 gene were 34 (94.44%), 33 (91.67%), 26 (72.22%), and 5 (13.89%), respectively. The most frequent polymorphism associated with ADPKD was the homozygous CAG→GAG which causes an amino acid change of Q[Gln] to E[Glu] at codon 3005.
conclusionOur data suggests that there is potentially a common polymorphism of
Indexed as
Identifiers
31832432PMC6844614W2975454542What OpenQuestion holds
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