Masahide Yazaki, Sandra A. Farrell, Merrill D. Benson

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A novel lysozyme mutation Phe57Ile associated with hereditary renal amyloidosis Masahide Yazaki, Sandra A. Farrell, Merrill D. Benson Kidney International Volume 63, Issue 5, Pages 1652-1657 (May 2003) DOI: 10.1046/j.1523-1755.2003.00904.x Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 1 Pedigree and Tsp509 I restriction site analysis of lysozyme exon 2 polymerase chain reaction (PCR) products. Solid symbols denote affected patients and an inner solid circle denotes an unaffected mutant gene (lysozyme Phe57Ile) carrier. Asterisks indicate a carrier of a Thr70Asn allele. An arrow indicates the proband. In restriction fragment length polymorphism (RFLP) analysis, the T to A transversion at the first position of codon 57 of the lysozyme gene creates a Tsp509 I restriction site within the 236 bp exon2 PCR amplified fragment. Enzyme digestion gives fragments of 128 bp and 108 bp for the mutant allele. The PCR-amplified fragments (236 bp) of the proband (II-1), her affected sister (II-2), and her unaffected (III-1) and affected daughter (III-2) were incompletely digested, indicating heterozygosity for the mutation. Abbreviations are: M, 100 bp molecular ruler DNA size standard (Bio-Rad); C, normal control. Kidney International 2003 63, 1652-1657DOI: (10.1046/j.1523-1755.2003.00904.x) Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 2 Histopathologic findings of biopsied kidney of the proband showing amyloid deposition in glomeruli and vascular walls (arrows). (A) Congo red staining. (B) Apple green birefringence typical of amyloid under polarized light. Kidney International 2003 63, 1652-1657DOI: (10.1046/j.1523-1755.2003.00904.x) Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 3 DNA sequence analysis of exon 2 of the lysozyme gene. Both thymine and adenine (arrows) are present at the first position of codon 57 of the lysozyme gene in the DNA sequence of the proband (II-1) and her affected sister (II-2). Furthermore, both cytosine and adenine (*) are present at the second position of codon 70 in the proband's sister (II-2) and her unaffected niece (III-3) who does not have the T to A transversion at the first position of codon 57. Kidney International 2003 63, 1652-1657DOI: (10.1046/j.1523-1755.2003.00904.x) Copyright © 2003 International Society of Nephrology Terms and Conditions