Detection of heterozygous c.1708C>T and c.1978C>G thyroid peroxidase (TPO) mutations in Iraqi patients with toxic and nontoxic goiter

Abstract

Sixty-three Arabic patients (16 males and 47 females) with thyroid toxic and nontoxic goiter who attended the endocrinologist in Nuclear Medicine Hospital and Al Yarmok Nuclear Medicine Department in Baghdad, Iraq were examined for thyroid peroxidase (TPO) gene mutations. A total of ten heterozygous mutations have been identified in the human TPO gene associated with thyroid toxic and nontoxic goiter. These mutations involved transition or transversion of cysteine either by thymine or guanine at the position 1708 of the exon 10 (c.1708C>T) and the position 1978 of the exon 11 (c.1978C>G). From a total of ten detected mutations, two c.1978C>G mutations were detected in nontoxic goiter patients and eight (two c.1708C>T and six c.1978C>G mutations) were detected in toxic goiter. In conclusion, this study identified ten TPO mutations associated with toxic and nontoxic goiter that have not been yet reported in Iraq, and most of them are detected among females (90 %) and adults age between 30 and 50 years old (80 %).

Keywords: Mutation; TPO; Thyroid disorders; c.1708C>T; c.1978C>G.

Fig. 1

Ethidium bromide-stained 1 % agarose gel electrophoresis carried out for 45 min at 100 V. Screening for of DNA samples of patients and control for TPO gene c.1708C>T mutations by LNA primer PCR. Lane 1 marker, lanes 2 and 4 wild controls, lanes 3 and 5 mutants from thyroid toxic goiter sample

Fig. 2

Ethidium bromide-stained 1 % agarose gel electrophoresis carried out for 45 min at 100 V. Screening of DNA samples of patients for TPO gene c.1978C>G mutations by LNA primer PCR. Lane 1 marker, lanes 2 and 4 wild control, lane 3 mutant from thyroid toxic goiter samples, lane 5 mutant from thyroid nontoxic goiter (557 bp)