Publication: Anion Exchanger 1 Gene (AE1) Single Nucleotide Polymorphism (SNP) Analysis Among Malays With Distal Renal Tubular Acidosis (DRTA) And Southeast Asian Ovalocytosis (SAO)
Date
2018-08
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Abstract
Anion Exchanger 1 (AE1) encoding the erythroid and kidney isoforms of AE1
protein is located on chromosome 17. Distal renal tubular acidosis (dRTA) is
characterized as its inability to acidify urine pH caused by AE1 polymorphisms.
Southeast Asian Ovalocytosis (SAO) is a hereditary red blood cell abnormality caused
by 27bp deletions in AE1. dRTA and SAO is highly prevalent in Southeast Asian
countries. Polymorphism in AE1 is known to cause both SAO and dRTA associated
with 27bp deletions which is still unclear.
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Keywords
Anion Exchanger , Distal Renal Tubular Acidosis