Polymerase chain reaction–single strand conformation polymorphism analysis of exons 10 and 18 in atypical hemochromatosis.

(A) Sample no. 212 (mother of proband) had an aberrantly shifted band in exon 10. Direct nucleotide sequencing found a G>A transversion resulting in a substitution at codon 455 of Gln (aberrant) for an Arg (normal sequence). (B) Four of the genomic DNA samples (nos. 213, 216-218) from the children of proband no. 212 showed, by PCR-SSCP, the same DNA-migration pattern as sample no. 212. Direct DNA sequencing of these samples revealed Arg455Gln. (C) Evidence for polymorphism in the 3′ untranslated region of exon 18 of TRF2. Samples 763, 909, 979, 1201, and 31018 showed the same polymorphic pattern by SSCP. Direct sequencing of these samples identified a change of G>C at nucleotide 154513 (GI3135305).