Volume 63, Issue 1, Pages (January 2003)

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Date of download: 6/9/2016 Copyright © 2016 American Medical Association. All rights reserved. From: Molecular Analysis and Prenatal Prediction of Spinal.

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Volume 63, Issue 1, Pages 24-32 (January 2003) A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes Israel Zelikovic, Raymonde Szargel, Ali Hawash, Valentina Labay, Ihab Hatib, Nadine Cohen, Farid Nakhoul Kidney International Volume 63, Issue 1, Pages 24-32 (January 2003) DOI: 10.1046/j.1523-1755.2003.00730.x Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 1 Extended pedigree of a Bedouin family with hypokalemic tubulopathy. Filled squares (males) and circles (females) indicate affected individuals. Deceased individuals are indicated by a diagonal line. The autosomal recessive mode of inheritance is evident. Kidney International 2003 63, 24-32DOI: (10.1046/j.1523-1755.2003.00730.x) Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 2 Linkage analysis in six subfamilies of the large kindred with hypokalemic tubulopathy. Filled squares (males) and circles (females) indicate affected individuals. Each individual within the kindred is numbered below the symbol. Haplotype analysis using microsatellite markers (shown on the left side) linked to the CLCNKB locus on chromosome 1p36 demonstrated cosegregation of the phenotype with the CLCNKB locus. Regions of homozygosity are framed. Kidney International 2003 63, 24-32DOI: (10.1046/j.1523-1755.2003.00730.x) Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 3 Mutation analysis by direct sequencing in family members affected with hypokalemic tubulopathy. The sequence in the mutation area for healthy individuals (A), heterozygotes (B) and affected homozygotes (C) is listed below the histograms. The analysis reveals a novel homozygous missense mutation, guanine to adenine, in exon 13 of CLCNKB. The mutation substitutes arginine with histidine (R438H) at amino acid 438 of the channel protein. Kidney International 2003 63, 24-32DOI: (10.1046/j.1523-1755.2003.00730.x) Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 4 Restriction fragment length polymorphism (RFLP) analysis of polymerase chain reaction-amplified fragment in exon 13 of CLCNKB containing the locus mutated in this family. The numbers correspond to the number of the individual within the kindred (see Figure 1 and 2). The cleavage site of the restriction enzyme Kas I in the wild-type 773 bp fragment is eliminated by the R438H mutation. Healthy individuals (wild-type) have two fast migrating bands, affected patients, homozygotes for the mutation (Mutant), have a single, slower migrating band and heterozygotes for the mutation have a three band pattern: two, fast migrating bands and one, slow migrating band. Kidney International 2003 63, 24-32DOI: (10.1046/j.1523-1755.2003.00730.x) Copyright © 2003 International Society of Nephrology Terms and Conditions