Related Experiment Video
Updated: Feb 6, 2026

Development of Human Renal Tubular Epithelial Cell Primary Cultures in Monolayers and Three-Dimensional Conditions
Published on: June 13, 2025
Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation-Related Autosomal Recessive Distal Renal
Nipaporn Deejai1, Suwannee Wisanuyotin2, Choochai Nettuwakul1
1Division of Molecular Medicine, Department of Research and Development, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Background:
Two common mutations of the solute carrier family 4 member 1 (SLC4A1) gene, namely, Southeast Asian ovalocytosis (SAO) and band 3 Bangkok 1 (G701D), cause autosomal recessive distal renal tubular acidosis (AR dRTA) in ethnic Southeast Asian populations. In this study, we applied the high-resolution melting (HRM) method for screening of AR dRTA associated with SLC4A1 mutations in 10 new patients with unknown cause(s) of AR dRTA.
Methods:
We analyzed SAO and G701D mutations in the patients and their family members using HRM. The results were confirmed by polymerase chain reaction-restriction fragment-length polymorphism (PCR-RFLP) and DNA sequencing techniques.
Results:
All patients carried homozygous G701D mutation, whereas their family members had heterozygous G701D or homozygous wild-type.
Conclusions:
Homozygous G701D is a common cause of AR dRTA in ethnic Thai pediatric populations. HRM can be used as a rapid screening method for common SLC4A1 mutations that cause AR dRTA in Southeast Asian and other populations.
More Related Videos
09:40Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells
Published on: June 20, 2018
07:10Author Spotlight: Expression and Purification of Human Solute Carrier Transporters Using Codon-Optimized Genes
Published on: September 29, 2023
Related Concept Videos
Protein Families
Gene Families
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Renal Drug Excretion: Tubular Reabsorption
Renal Drug Excretion: Tubular Secretion
Drug Elimination by Renal Route: Tubular Secretion
Drug Elimination by Renal Route: Tubular Reabsorption