M.A. Thesis:

Sereaning of the CTG repeats DMPK Gene by PCR-PAGE

Myotonic dystrophy is a predominant autosomal abnormality that is typically inherited from one's parents, with an incidence of one in 8,000 births. in type 1 (DM1), triplet expantion of CTG in DMPK gene occurs. The transcriptome of the DMPK protein kinase gene is located on chromosome 19q13.3. The number of CTG repeats in healthy individuals ranges from 5 to 37. Patients with 1 DM have 38 to 4000 repeats or more and show very diverse clinical symptoms. The incidence of the disease also varies widely within one family or another. The aim of this study was to screen the number of DMPK gene CTG repeats by PCR-Sequencing. For this purpose, 10 whole blood samples of those who were referred to the laboratory for routine testing were used. Then, DNA extraction was performed by PCR technique. And we loaded the products on agarose gel and sent samples for sequencing to verify the work. The results of our work showed that all 10 samples examined for CTG repeats had normal repeats and all samples were normal in this respect, but showed that PCR-Sequencing method is well able to determine the number of CTG sequences of DMPK gene and from This method can be used in laboratories and research centers. And other researchers can use the results of this research to further research in this field. Also, due to the normality of all samples for repeat CTG, more samples can be used.

Keywords: Keywords : PCR-Sequencing, DMPK gene, DM1, screening, triplet repeat