| Studies Of Polymorphism On The Transforming Growth Factor (Tgf)-İn Scleroderma
Scleroderma (SSc) is a rare seen chronic otoimmune disease. Scleroderma causes fibrosis in skin and organs. The main cause of hardness is over-expression and accumulation of intracellular matrix proteins like collagen. One of the genetic factors in disease etiology is the level of cytokine alternations. Transforming Growth Factor-1 (TGF-1), one of the cytokins expressed especially in epitel and connective tissue cells, and induced collagen expression in fibroblast cells, is a intercellular signal protein. There are some strong evidence proving variations in the gene coding TGF-1 protein that affect gene expression and contribute to fibrotic phenotype formation. Seven polymorphic regions have been identified in TGF-1 gene. In this study, 43 women SSc patients and 75 healthy women are used for detecting the contribution of codon 10 (leucine-proline) and codon 25 (arginine-proline) polymorphisms in TGF-1 gene to understand pathogenesis of disease in Turkish population. Amplification refractory mutation system (ARMS)-PCR is used to detect the variations of allels in the polymorphic regions. As a result of this study, for codon 10 region, 14 of 43 SSc patients (33 %) has CC allel, 13 of them (30 %) has TC and 16 of them (% 37) has TT genotypes, in healthy control grup, 23 of 75 individuals (% 29) has CC, 30 of them has (% 40) TC ve 22 of them (% 31) has TT genotypes. A significant correlation between this polymorphic region and disease is not found (p= 0,529). For codon 25 region, 36 of 43 SSc patients (% 84) has GG, 7 of them (% 16) has GC genotypes, in healthy control grup, 68 of 75 individuals (% 91) has GG and 7 of them (% 9) has GC genotypes. This region also doesn’t have an association with disease
(p=0,375).
EREN Barış ,
Danışman : Prof. Dr. Nermin GÖZÜKIRMIZI
Anabilim Dalı : Moleküler Biyoloji ve Genetik
Programı (Varsa) :
Mezuniyet Yılı : 2007
Tez Savunma Jürisi : Prof. Dr. Nermin GÖZÜKIRMIZI (Danışman)
Prof. Dr. Güler TEMİZKAN
Prof. Dr. Avni KURU
Prof. Dr. Ahmet ZEHİR
Prof. Dr. Ayşegül TOPAL SARIKAYA
Dostları ilə paylaş: |
