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Figure 2 | BMC Endocrine Disorders

Figure 2

From: Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism

Figure 2

In the left side: DHPLC profiles of wild type (green) and mutated (brown) PAX8 exon 5. The partial denaturing temperature was set at 61.3°C and the chromatographic parameters were obtained by means of the WAVEMaker software (Transgenomic, Omaha, NE), based on the amplicon sequence [23]. In the right side: Sequencing electropherogram of exon 5. A heterozygous C → T transition is shown where a Y is reported, corresponding to nucleotide 397 of the PAX8 coding sequence (NCBI Reference Sequence NM_003466.3). The mutation replaces a conserved arginine at position 133 with a tryptophan residue (R133W).

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BMC Endocrine Disorders

ISSN: 1472-6823

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