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Title: Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population
Authors: Pa Thai Yenchitsomanus
Nunghathai Sawasdee
Atchara Paemanee
Thitima Keskanokwong
Somkiat Vasuvattakul
Sasitorn Bejrachandra
Warunee Kunachiwa
Supan Fucharoen
Prapaporn Jittphakdee
Wanwimon Yindee
Charupon Promwong
Mahidol University
Thailand National Science and Technology Development Agency
Chiang Mai University
Khon Kaen University
Prince of Songkla University
Keywords: Biochemistry, Genetics and Molecular Biology
Issue Date: 31-Oct-2003
Citation: Journal of Human Genetics. Vol.48, No.9 (2003), 451-456
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.
ISSN: 14345161
Appears in Collections:Scopus 2001-2005

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