Volume 127, Issue 5, Pages (November 2004)

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Volume 127, Issue 5, Pages 1381-1385 (November 2004) No evidence of maternal cell colonization in reverted liver nodules of tyrosinemia type I patients Anne Bergeron, Francine Lettre, Pierre Russo, Jean Morissette, Robert M. Tanguay Gastroenterology Volume 127, Issue 5, Pages 1381-1385 (November 2004) DOI: 10.1053/j.gastro.2004.08.013 Copyright © 2004 American Gastroenterological Association Terms and Conditions

Figure 1 FAH staining of liver sections. Six-micrometer sections from the livers of the 5 probands were studied using an indirect immunoperoxidase method with a rabbit anti-FAH antibody and a secondary goat anti-rabbit immunoglobulin G antibody coupled to peroxidase. (A—D) FAH-stained liver sections of probands 1, 2, 3, and 5, respectively. Dashed lines represent the dissected regions. Gastroenterology 2004 127, 1381-1385DOI: (10.1053/j.gastro.2004.08.013) Copyright © 2004 American Gastroenterological Association Terms and Conditions

Figure 2 Genotype analysis of HTI patients and their parents. The genotypes of probands 3 and 4 and of their parents were determined by a radioactive short DNA repetition marker analysis using the (A) AFM248we5, (B) AFM151xf6, (C) AFM163xa11, and (D) AFM203wf4 markers. (A and B) Genotyping results of proband 3; (C and D) genotyping results of proband 4. The DNA in each lane is depicted as follows: F, DNA from the father; M, DNA from the mother; P, DNA from peripheral blood of the proband; MP, DNA from peripheral blood of the mother and the proband in a 1:1 ratio; MPP, DNA from peripheral blood of the mother and the proband in a 1:2 ratio; and L, DNA from a FAH-reverted liver nodule of the proband. The paternal allele is represented by a solid line. The maternal alleles are represented by dashed lines. Gastroenterology 2004 127, 1381-1385DOI: (10.1053/j.gastro.2004.08.013) Copyright © 2004 American Gastroenterological Association Terms and Conditions

Figure 3 DNA mutation analysis of FAH-reverted liver nodules from 4 HTI probands. DNA isolated from microdissected FAH-expressing liver nodules of IVS12+5g→a homozygous probands 1, 2, 3, and 5 were analyzed for the presence of the mutation. PCR amplification and Rsa1 enzyme digestion of DNA harboring the IVS12+5g→a mutation produces a 124-bp fragment, whereas wild-type (WT) fah produces a 100-bp fragment. As controls, DNA from a IVS12+5g→a homozygous patient (100:0), a heterozygous carrier (50:50), a normal individual (0:100), and mixtures of DNA from a IVS12+5g→a carrier with DNA from the homozygous IVS12+5g→a patient and normal individual in 1:1 ratios (75:25 and 25:75, respectively) also were PCR amplified and digested. The percentage of wild-type fah present in the samples was estimated using National Institutes of Health Image software. Gastroenterology 2004 127, 1381-1385DOI: (10.1053/j.gastro.2004.08.013) Copyright © 2004 American Gastroenterological Association Terms and Conditions