Publication: Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population
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Issued Date
2003-10-31
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ISSN
14345161
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2-s2.0-0142024019
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Mahidol University
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SCOPUS
Bibliographic Citation
Journal of Human Genetics. Vol.48, No.9 (2003), 451-456
Suggested Citation
Pa Thai Yenchitsomanus, Nunghathai Sawasdee, Atchara Paemanee, Thitima Keskanokwong, Somkiat Vasuvattakul, Sasitorn Bejrachandra, Warunee Kunachiwa, Supan Fucharoen, Prapaporn Jittphakdee, Wanwimon Yindee, Charupon Promwong Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population. Journal of Human Genetics. Vol.48, No.9 (2003), 451-456. doi:10.1007/s10038-003-0059-6 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/20683
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Title
Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population
Abstract
We have previously demonstrated that compound heterozygous (SAO/GT01D) and homozygous (GT01D/GT01D) 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, ΔV850, 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 GT01D 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.