Lack of Pathogenic Mutation in the Human CAII Gene in an Individual Suffering Renal Tubular Acidosis

Renal tubular acidosis (RTA) is a rare disorder. It has four clinical types, which ‘Type 3 RTA’ demonstrating a mixed pattern of tubular dysfunction. The causative gene for type 3 RTA is located on the 8q22 locus and encodes, a protein called carbonic anhydrase II. In this study we analysed the entire exons and flanking regions of the gene CAII in one child suffering renal tubular acidosis with autosumal recessive pattern, and clinical diagnosis of type3 RTA. DNA was extracted from blood sample of patient by the salting out extraction method. The exons and flanking regions of the CAII gene were amplified using polymerase chain reaction (PCR). We performed exon direct sequencing by forward and reverse primers. No mutation was found following the screening of the entire coding sequence of the CAII gene. It is likely that another gene must be involved in this case. In other word another type of RTA must be considered