Publication: Molecular diagnosis of solute carrier family 4 member 1 (SLC4A1) mutation-related autosomal recessive distal renaltubular acidosis
13
Issued Date
2019-02-01
Resource Type
ISSN
19437730
00075027
00075027
Other identifier(s)
2-s2.0-85058908180
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
Lab Medicine. Vol.50, No.1 (2019), 78-86
Suggested Citation
Nipaporn Deejai, Suwannee Wisanuyotin, Choochai Nettuwakul, Sookkasem Khositseth, Nunghathai Sawasdee, Kiattichai Saetai, Pathai Yenchitsomanus, Nanyawan Rungroj Molecular diagnosis of solute carrier family 4 member 1 (SLC4A1) mutation-related autosomal recessive distal renaltubular acidosis. Lab Medicine. Vol.50, No.1 (2019), 78-86. doi:10.1093/labmed/lmy051 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/50272
Research Projects
Organizational Units
Authors
Journal Issue
Thesis
Title
Molecular diagnosis of solute carrier family 4 member 1 (SLC4A1) mutation-related autosomal recessive distal renaltubular acidosis
Abstract
© American Society for Clinical Pathology 2018. All rights reserved. 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.