Diagnosis of Mutations in Thyroid Stimulating Hormone Receptorgene (TSHR) of Thyroid Disorders Patients in Basra Province

Abstract

The study was conducted on 90 blood samples divided into 35 samples  Hypothyroidism 35 samples hyperthyroidism (group of patients ) and 20samples from healthy people ( control group). DNA of two groups was extracted and exon 10 was amplified by using PCR. Mutations were diagnosed and analyzed by using Sequencing. The present study found seven novel mutations in exon 10, divided into five mutations among hypothyroidism patients compared to control (who did not appear to have any type of mutations diagnosed). All mutations diagnosed were substitution included transition or transversion depending on the nature of the mutant base, three missense mutation in three hypothyroidism patients with a proportion of 20% each. They are as follows c.1330 T>C, Y444H; c.1424 T>C, L475P and c.1435 T>C, S479P and two silent mutation in two hypothyroidism patients (c.1338G>A, L446L and c.2300 G>A Untranscrib).While the result showed two mutation in hyperthyroidism, one was missense mutation (c.1832 C>A, P610Q) and the other silent mutation (c.2103 C>A, R701R).

The current study pointed out the occurrence of the disease linked with mutations in specific areas of linking stimulating hormone and the interaction between the protein receptor and α-subunit for G-protein.