Research Information System
Thesis Type: Postgraduate
Institution Of The Thesis: Gazi Üniversitesi, Fen Bilimleri Enstitüsü, Turkey
Approval Date: 2008
Student: NACİYE SELCEN BAYRAMCI
Supervisor: LEYLA AÇIK
Open Archive Collection: AVESIS Open Access Collection
Abstract:After the cloning of proto-oncogene RET, it has been identified that the mutation which occurs within the proto-oncogene RET causes medullary thyroid carcinoma, papillary thyroid carcinoma and Hirschsprung's disease. With the aim of exploring the mutation in the 10th, 11th and the13th exons of proto-oncogene RET which exist in 11.2 band in q arm of 10th chromosome that is associated with thyroid carcinoma, 193 people including 108 of thyroid patients and 85 of control groups were examined by Polymerase Chain Reaction-automatic DNA sequence analysis method. Out of 108 thyroid patients was found mutation on 11th exon of proto-oncogene RET in 15 patients (13,88%) and on 13th exon in 31 patients (28,70%). However, none of the examined patients had mutation on the 10th exon of proto-oncogene RET. The correlation analysis has been conducted between the whole mutation instances identified the patient and control group, but no statistical meaning has been figured out (p=0,67). In the 630th codon of 11th exon of proto-oncogene RET was found TGC (sistein) CAT (histidin), in the 632nd codon of GAG (glutamic acid) AGC (serine), 633rd codon CTG (leucine) TGG (tryptophan), 634th codon TGC (cysteine) TGG (tryptophan), 635th codon CGC (arginine) AGC (serine), 637th codon GTG (valine) GTT (valine), 659th codon TGC (sisteine) TAC (tyrosine), 662nd codon AAG (lysine) AGT (serine), 691st codon GGT (gly) GGG (gly), 697th codon CTG (leu) ATG (met), 701st codon GAG (glutamic acid) AAG (lysine), 702nd codon AAC (asparagine) AAA (lysine) and in the 703rd codon CAG (glutamine) AAG (lysine) mutations that do not exist defined in literature. In the research done by other researchers so far, it has been identified that Cys630Ser mutation that is associated with medullary thyroid carcinoma is diagnosed on 5 patients with papillary thyroid carcinoma, 1 patient with follicular thyroid carcinoma and 1 patient with multinodular goiter, also Gly691Ser mutation that is associated with multiple endocrine neoplasia type 2A is diagnosed on 2 patients with papillary thyroid carcinoma. In the 763th codon of 13th exon of proto-oncogene RET was found AAC (aspartic acid) AAT (aspartic acid), in the 765th codon TCC (serine) TGC (cysteine), 767th codon AGC (serine) AGG (arginine), 770th codon CGA (arginine) CAA (glutamic acid) and in the 795th codon AGC (serine) ACC (threonine) mutations that do not exist defined in literature. In this thesis study, it is aimed to figure out the roles of the mentioned mutations in pathogens of thyroid carcinoma and thyroid diseases and also to set up a basis for the gene representation studies that will be conducted to define the genetic profile of proto-oncogene RET in the following years. By doing mutation analysis in the proto-oncogene RET that is associated with thyroid carcinoma, a step forward will be taken to early diagnosis on the young family members and relatives of the patients before a symptom is observed or/and the disease is worsened; and to avoid the disease from going- ahead by initiating the treatment.