Results: 2

1.
Figure 2

Figure 2. From: Autosomal-dominant hemochrom-atosis is associated with a mutation in the ferroportin (SLC11A3) gene.

Mutation detection. (a–c) Sequencing chromatographs of the forward sequence of exon 3 spanning the GCC→GAC mutation (A77D) substitution are compared for a normal control (a) and two patients (b and c). The mutation is indicated by an arrow. The sequence of the mismatched primer used to introduce an informative restriction site for MboII into the mutated allele is also indicated. The primer contains an A→G substitution, which, in the presence of the mutation, creates a novel GAAGA recognition site for MboII. (d) Segregation of the A77D mutation, introduction of the MboII site into mutant alleles, and restriction digestion with MboII. The information is from individuals II-9, II-10, III-21, III-22, III-24, III-26, III-27, and III-28. Normally, one fragment is obtained (131 bp). The amplification product from the mutant allele contains the novel MboII site resulting in cleavage into 37- and 94-bp fragments. The 37-bp fragment has run off the bottom of the gel.

Giuliana Montosi, et al. J Clin Invest. 2001 August 15;108(4):619-623.
2.
Figure 1

Figure 1. From: Autosomal-dominant hemochrom-atosis is associated with a mutation in the ferroportin (SLC11A3) gene.

Pedigree of the family harboring the ferroportin A77D mutation. The large pedigree used for genetic mapping is shown. Some individuals from this family were described previously (1). Filled symbols represent affected individuals; open symbols represent unaffected individuals. All patients had increased transferrin saturation and serum ferritin and most had disease-related clinical complications. One patient, III-19, was reported previously to be unaffected (8). However, she subsequently entered menopause and developed a markedly elevated serum ferritin level; she is currently on phlebotomy treatment. Haplotypes are defined by eight microsatellite markers (on the right) spanning 2q32, where SLC11A3 lies. Allelic variants have been arbitrarily numbered; boxed numbers indicate the region carrying the disease gene. Asterisks indicate recombination events. The presence or absence of the A77D mutation is indicated for each individual at the bottom of the allele columns (+, present; –, absent).

Giuliana Montosi, et al. J Clin Invest. 2001 August 15;108(4):619-623.

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