دراسة تشخيص أنواع الطفرات في جين Thyroid Peroxidase TPO لدى مرض قصور نشاط الغدة الدرقية في محافظة البصرة

Abstract EN

The study aims to detect the genetic defect for failure patients thyroid activity and has the study on 55 blood sample is divided into 35 blood samples from people with the status of deficiencies in the activity of the thyroid and represented the group of patients (Patients Group) and 20 blood samples from healthy people was set control (Control Group) extracted DNA for the two groups and amplified three exons (8 (1, 2), 9, 14) to TPO gene by using the (PCR) was then diagnosed mutations and analyzed in Sequencing study found 12 Novel Mutation in exon 8 in 21 infected condition palaces compared to the control group and that all mutations are diagnosed compensatory mutations (substitution) ensure that the type of Transtion or Transversion depending on the nature of the base mutant five mutations are Missense Mutation in 11 patients condition limitations are as follows (c.949A > G, M317V, c.1064G > A, R355H, c.1277C > G, A425G, c.1063C > A, R355S and c.1207C > A, L402M)) and seven silent mutations in 10 patients condition palaces (c.1062G > A, A354A, c.1050C > A, L350L, c.843C > A, A281A, c.1101G > A, V367V, c.1143C > T, I381I, c.1071G > A, R357R and c.2406C > T, D802D).

While not shown any difference in the analysis of the genetic sequence exon 9, 14 at comparable with the genetic sequence of the control group.

In this study suggests that there may be a link between the occurrence of mutations in the TPO gene and the status of Hypothyroidism.