Title: Identification of Mutations in the coding region of the Human thyroid peroxidase gene in patients with Hypothyroidism.
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Title: |
Identification of Mutations in the coding region of the Human thyroid peroxidase gene in patients with Hypothyroidism. |
Author Name: |
Mahdi Saber G. Al-Deresawi |
Abstract: |
The objective of this study was to determine molecular analysis of the exon 8/TPO gene in Iraqi patients. Fifty patients with hypothyroidism and 25 healthy control group was included in this study, all patients and control group was male and ages range from 20 to 50 years . The results of hormonal assays showed there are significant (p < 0.05) increase in TSH levels (21.11 ± 2.44μIU/ml) , significant (p < 0.05) increase in Tᴈ (8.19 ± 1.96 n. mol/L) and significant decrease in T4 levels (45.22 ± 3.81 n. mol/L) . The molecular study was carried out by DNA Sequencing for purified of PCR product to exon 8/TPO gene , there were three novel mutations in this region; (c.924delG) deletion of Guanine in codon 278 in open reading frame of this gene lead to prevent the efficient translation. ii : (c.1207T>G) substitution mutation changed the codon(TCG) that coding for Serine in 372 position to (GCG) codon that coding for Alanine this alternation affecting on folding of thyroid peroxidase enzyme .iii : silent mutation (c.1284G>C) in 398 position , the substitution Guanine to cytosine in codon(ACG) that coding for Threonine to (ACC) that coding for the same amino acid |
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