Ken-Ichi Egoshi, Koichiro Akakura, Takaomi Kodama, Haruo Ito

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Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria Ken-Ichi Egoshi, Koichiro Akakura, Takaomi Kodama, Haruo Ito Kidney International Volume 57, Issue 1, Pages 25-32 (January 2000) DOI: 10.1046/j.1523-1755.2000.00821.x Copyright © 2000 International Society of Nephrology Terms and Conditions

Figure 1 Primers in the rBAT gene for RNA-SSCP analysis. Kidney International 2000 57, 25-32DOI: (10.1046/j.1523-1755.2000.00821.x) Copyright © 2000 International Society of Nephrology Terms and Conditions

Figure 2 Primers in the rBAT gene for DNA-SSCP analysis. Kidney International 2000 57, 25-32DOI: (10.1046/j.1523-1755.2000.00821.x) Copyright © 2000 International Society of Nephrology Terms and Conditions

Figure 3 Identification of 1898insTA mutation in a Japanese family with cystinuria. (A) A family tree of the patient with 1898insTA. The presence of the 1898insTA mutation is indicated (*). Filled and half-filled symbols represent cystinuric patient and carriers, respectively. (B) A sequence comparison of DNA from the family members and an unaffected control. The sequence analysis presents insertion of the nucleotides TA at position 1898 of rBAT gene. The sequence analysis of the genomic DNA from his parents revealed that the mutation was heterozygous. They have one normal allele and one containing an insertion of TA at position 1898. He has inherited this mutational allele from both of his parents. Kidney International 2000 57, 25-32DOI: (10.1046/j.1523-1755.2000.00821.x) Copyright © 2000 International Society of Nephrology Terms and Conditions

Figure 4 Restriction digestion analysis of three cases of one point mutation. The fragments were amplified using primers digested with appropriate restriction enzymes and analyzed by gel electrophoresis. (A) Alu I digestion of case 1 (M) and controls (C) for the L346P mutation. The mutation destroys an Alu I site. The presence of Alu I digested products (53 bp, 77 bp, and 106 bp fragments) and the uncut fragment (130 bp) demonstrates that case 1 is heterozygous for L346P. (B) Bsr I digestion of case 5 (M) and controls (C) for the I445T mutation. The mutation creates a Bsr I site that cleaves the normal fragment of 317 bp into 68 and 249 bp fragments (the smallest fragment is not visible in the figure). (C) Sph I digestion of case 7 (M) and controls (C) for the C673R mutation. The mutation destroys a Sph I site. The presence of Sph I-digested products (74 bp and 270 bp fragments) and the uncut fragment (344 bp) demonstrates that case 7 is heterozygous for C673R. Kidney International 2000 57, 25-32DOI: (10.1046/j.1523-1755.2000.00821.x) Copyright © 2000 International Society of Nephrology Terms and Conditions