Volume 54, Issue 1, Pages (July 1998)

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Volume 54, Issue 1, Pages 48-55 (July 1998) Molecular genetics of cystinuria: Mutation analysis of SLC3A1 and evidence for another gene in the Type I (silent) phenotype Irfan Saadi, Xing-Zhen Chen, Matthias Hediger, Patricia Ong, Perpetual Pereira, Paul Goodyer, Rima Rozen Kidney International Volume 54, Issue 1, Pages 48-55 (July 1998) DOI: 10.1046/j.1523-1755.1998.00956.x Copyright © 1998 International Society of Nephrology Terms and Conditions

Figure 1 Sequence analysis for proband 1440 (left panel) and control (right panel). PCR amplification was performed using the primers indicated in Table 2 and direct sequencing of the PCR fragment revealed a 2bp (TG) deletion in proband 1440. Kidney International 1998 54, 48-55DOI: (10.1046/j.1523-1755.1998.00956.x) Copyright © 1998 International Society of Nephrology Terms and Conditions

Figure 2 Restriction digestion analysis of three mutations. Fragments were amplified using primers indicated in Table 2, digested with appropriate restriction enzymes and analyzed by gel electrophoresis. (A) AflIII digestion of Family 782 and two controls (C) for diagnosis of the A649C (S217R) mutation. The mutation creates a AflIII site that cleaves the normal fragment of 262bp into 178 and 84bp fragments. (B) DdeI digestion of proband 1226, her father, and two controls (C) for the G809T (R270L) mutation. The mutant PCR fragment contains an artificially-created DdeI site that cleaves the normal fragment of 140bp into 111 and 29bp fragments. The 29bp fragment is not seen on this gel. (C) MspI digestion of proband 818, her parents and 1 control (C) for the G1011A (P337P) mutation. The mutation obliterates a MspI restriction site which normally cleaves into 171 and 55bp fragments (the 55bp fragment is not seen on this gel). In the absence of this restriction site, the uncleaved fragment of 226bp is seen in the proband and her father. Kidney International 1998 54, 48-55DOI: (10.1046/j.1523-1755.1998.00956.x) Copyright © 1998 International Society of Nephrology Terms and Conditions

Figure 3 Southern analysis for proband 936 and her parents.HindIII-digested DNA was electrophoresed on 0.8% agarose gels, transferred by Southern blotting and hybridized with the radiolabeled full-length SLC3A1 cDNA (2.3kb). The proband is missing several bands (20kb, 9kb, and 6kb), suggesting that a large deletion is present on both alleles. The proband has three new bands; the 12kb and 7kb bands were inherited from the mother while the 4.5kb band was inherited from the father. Kidney International 1998 54, 48-55DOI: (10.1046/j.1523-1755.1998.00956.x) Copyright © 1998 International Society of Nephrology Terms and Conditions

Figure 4 Expression analysis of missense mutations in Xenopus oocytes. The graph depicts the mean andsd for cystine uptake in 10 oocytes for each construct. (A) Uptake was measured 24hours after injection for wild-type D2H/SLC3A1 (D2H-wt) and for four missense mutations (T216M, S217R, R270L, and I618M). Uptake was significantly decreased for all mutant constructs except the I618M substitution. (B) Uptake was measured six hours after injection for the wild-type (D2H-wt) and the S217R constructs. The S217R construct had significantly decreased uptake compared to the control. Kidney International 1998 54, 48-55DOI: (10.1046/j.1523-1755.1998.00956.x) Copyright © 1998 International Society of Nephrology Terms and Conditions

Kidney International 1998 54, 48-55DOI: (10. 1046/j. 1523-1755. 1998 Kidney International 1998 54, 48-55DOI: (10.1046/j.1523-1755.1998.00956.x) Copyright © 1998 International Society of Nephrology Terms and Conditions

Kidney International 1998 54, 48-55DOI: (10. 1046/j. 1523-1755. 1998 Kidney International 1998 54, 48-55DOI: (10.1046/j.1523-1755.1998.00956.x) Copyright © 1998 International Society of Nephrology Terms and Conditions

Kidney International 1998 54, 48-55DOI: (10. 1046/j. 1523-1755. 1998 Kidney International 1998 54, 48-55DOI: (10.1046/j.1523-1755.1998.00956.x) Copyright © 1998 International Society of Nephrology Terms and Conditions