title: Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population.
abstract: We have previously demonstrated that compound heterozygous (SAO/G701D) and homozygous (G701D/G701D) mutations of the anion exchanger 1 (AE1) gene, encoding erythroid and kidney AE1 proteins, cause autosomal recessive distal renal tubular acidosis (AR dRTA) in Thai patients. It is thus of interest to examine the prevalence of these mutations in the Thai population. The SAO and G701D mutations were examined in 844 individuals from north, northeast, central, and south Thailand. Other reported mutations including R602H, DeltaV850, and A858D were also examined in some groups of subjects. The SAO mutation was common in the southern Thai population; its heterozygote frequency was 7/206 and estimated allele frequency 1.70%. However, this mutation was not observed in populations of three other regions of Thailand. In contrast, the G701D mutation was not found in the southern population but was observed in the northern, northeastern, and central populations, with heterozygote frequencies of 1/216, 3/205, and 1/217, and estimated allele frequencies of 0.23%, 0.73%, and 0.23%, respectively. The higher allele frequency of the G701D mutation in the northeastern Thai population corresponds to our previous finding that all Thai patients with AR dRTA attributable to homozygous G701D mutation originate from this population. This suggests that the G701D allele that is observed in this region might arise in northeastern Thailand. The presence of patients with compound heterozygous SAO/G701D in southern Thailand and Malaysia and their apparently absence in northeastern Thailand indicate that the G701D allele may have migrated to the southern peninsular region where SAO is common, resulting in pathogenic allelic interaction.
authors.affiliation: Division of Medical Molecular Biology, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand. grpye@mahidol.ac.th.|Medical Biotechnology Unit, National Center for Biotechnology and Genetic Engineering (BIOTEC), National Science and Technology Development Agency (NSTDA), Bangkok, Thailand. grpye@mahidol.ac.th.
authors.forename: Pa-Thai
authors.initials: PT
authors.lastname: Yenchitsomanus
authors.affiliation: Division of Medical Molecular Biology, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
authors.forename: Nunghathai
authors.initials: N
authors.lastname: Sawasdee
authors.affiliation: Division of Medical Molecular Biology, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.|Medical Biotechnology Unit, National Center for Biotechnology and Genetic Engineering (BIOTEC), National Science and Technology Development Agency (NSTDA), Bangkok, Thailand.
authors.forename: Atchara
authors.initials: A
authors.lastname: Paemanee
authors.affiliation: Division of Medical Molecular Biology, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
authors.forename: Thitima
authors.initials: T
authors.lastname: Keskanokwong
authors.affiliation: Division of Nephrology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Somkiat
authors.initials: S
authors.lastname: Vasuvattakul
authors.affiliation: Department of Transfusion Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Sasitorn
authors.initials: S
authors.lastname: Bejrachandra
authors.affiliation: Department of Clinical Immunology, Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, Thailand.
authors.forename: Warunee
authors.initials: W
authors.lastname: Kunachiwa
authors.affiliation: Department of Clinical Chemistry, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
authors.forename: Supan
authors.initials: S
authors.lastname: Fucharoen
authors.affiliation: Department of Pathology, Faculty of Medicine, Prince of Songkla University, Songkla, Thailand.
authors.forename: Prapaporn
authors.initials: P
authors.lastname: Jittphakdee
authors.affiliation: Department of Pathology, Faculty of Medicine, Prince of Songkla University, Songkla, Thailand.
authors.forename: Wanwimon
authors.initials: W
authors.lastname: Yindee
authors.affiliation: Department of Pathology, Faculty of Medicine, Prince of Songkla University, Songkla, Thailand.
authors.forename: Charupon
authors.initials: C
authors.lastname: Promwong
mesh_terms: D000141:Acidosis, Renal Tubular / Q000453:epidemiology / Q000235:genetics*; D001457:Anion Exchange Protein 1, Erythrocyte / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D005787:Gene Frequency; D005808:Genes, Recessive / Q000235:genetics; D006580:Genetic Carrier Screening; D005820:Genetic Testing / Q000379:methods; D006720:Homozygote; D006801:Humans; D008296:Malaysia / Q000453:epidemiology; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D013785:Thailand / Q000453:epidemiology
chemical_list: D001457:Anion Exchange Protein 1, Erythrocyte; D017931:DNA Primers