Volume 56, Issue 5, Pages (November 1999)

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Molecular Approaches for Screening of Genetic Diseases

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Volume 56, Issue 5, Pages 1674-1682 (November 1999) Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis Somkiat Vasuvattakul, M.D., Pa-thai Yenchitsomanus, Prayong Vachuanichsanong, Peti Thuwajit, Charoen Kaitwatcharachai, Vichai Laosombat, Prida Malasit, Prapon Wilairat, Sumalee Nimmannit Kidney International Volume 56, Issue 5, Pages 1674-1682 (November 1999) DOI: 10.1046/j.1523-1755.1999.00756.x Copyright © 1999 International Society of Nephrology Terms and Conditions

Figure 1 Screening of mutations in exons 11 and 17 of the AE1 gene in the two patients with Southeast Asian ovalocytosis (SAO) and distal renal tubular acidosis (dRTA) and their parents by the PCR-SSCP technique. The two patients (II-1 in both families) had mobility shifts of single-stranded DNAs in both exons 11 and 17 (arrows), whereas their parents had the mobility shifts in either exon 11 (I-2 in family of YAT and I-1 in family of KSN) or exon 17 (I-1 in family of YAT and I-2 in family of KSN). “N” is normal individual. Kidney International 1999 56, 1674-1682DOI: (10.1046/j.1523-1755.1999.00756.x) Copyright © 1999 International Society of Nephrology Terms and Conditions

Figure 2 Sequencing analysis of exon 11 of the AE1 gene in the patient with dRTA and SAO (II-1, family of KSN), showing nucleotide sequence of exon 11 with 27 nucleotide deletion superimposing the normal sequence. Identical 27 nucleotides in the normal and deleted alleles (the latter is separated from the nucleotide stretch) are blocked. The deletion of 27 nucleotides in one allele resulted in shifting of the remaining nucleotide sequence superimposing the normal sequence in the autoradiogram. Kidney International 1999 56, 1674-1682DOI: (10.1046/j.1523-1755.1999.00756.x) Copyright © 1999 International Society of Nephrology Terms and Conditions

Figure 3 Sequencing analysis of exon 17 of AE1 gene in the patient with SAO and dRTA (II-1, family of KSN). A substitution from G to A in the second nucleotide of codon 701 was observed. This substitution results in missense mutation changing the amino acid at the position 701 from glycine to aspartic acid (G701D). Kidney International 1999 56, 1674-1682DOI: (10.1046/j.1523-1755.1999.00756.x) Copyright © 1999 International Society of Nephrology Terms and Conditions

Figure 4 Detection of exon 11 deletion and exon 17 (CGG→CAG) missense mutation in the patients (II-1) of KSN and YAT families by agarose gel electrophoresis. (A) PCR products from amplifications of exon 11 of AE1 gene with AE1Ex11L/AE1Ex11R primers. Normal control sample (lane 2) showed only a PCR product with the size of 318 bp. DNA samples from the patients of the KSN (lane 3) and YAT (lane 4) families who had 27 bp deletion in exon 11 in one allele of the AE1 genes resulted in PCR products with the sizes of 318 and 291 bp, and also their heteroduplexes. (B) PCR products from amplifications of exon 17 with AE1Ex17L/AE1Ex17R primers and digestions with HpaII restriction endonuclease, which could digest the normal (CCGG) but not the mutant (CCAG) sequences. A normal control sample (lane 2) showed digested fragments with the sizes of 254 and 93 bp. DNA samples from the patients of the KSN (lane 3) and YAT (lane 4) families who had exon 17 missense mutation in one allele of the AE1 gene revealed both digested (254 and 93 bp) and undigested (347 bp) PCR products. Lane 1 in both sets is Phix174 DNA/HaeIII markers. Kidney International 1999 56, 1674-1682DOI: (10.1046/j.1523-1755.1999.00756.x) Copyright © 1999 International Society of Nephrology Terms and Conditions

Figure 5 Sequencing analysis of exon 4 of the AE1 gene in a normal individual and the patient with SAO and dRTA (II-1, the family of KSN). The normal individual had AAG (code for lysine), but the patient had GAG (code for glutamic acid) at codon 56. The band 3 variant that had glutamic acid at the position 56 was previously described as band 3 Memphis I. The patient who had the 27 bp deletion in exon 11 and the G→A substitution in codon 701 in exon 17 was homozygous for band 3 Memphis I. Therefore, these two mutations were linked to band 3 Memphis I polymorphism. Kidney International 1999 56, 1674-1682DOI: (10.1046/j.1523-1755.1999.00756.x) Copyright © 1999 International Society of Nephrology Terms and Conditions