Screening of Single Nucleotide Polymorphism in CD95 (APO-1/FAS) Promoter Region (G-1377A) in Children with Acute Leukemia

摘要

CD95 is a cell surface receptor involved in apoptotic signal transmission. Deregulation of this pathway results in down regulation of apoptosis and subsequent persistence of a malignant clone. A single nucleotide polymorphism (SNP) resulting in guanine-to-adenine (G > A) transition in the CD95 promoter region (position ﹣1377) is thought to reduce stimulatory protein 1 (SP1) transcription factor binding and decrease CD95 expression. The purpose of this study was to examine a genetic polymorphism in the core promoter of CD95 is associated with the frequency. G-1377A in the CD95 promoter region was genotyped by polymerase chain reaction and restriction endonuclease analysis and sequenced of the CD95 gene (Beckman Coulter, USA). Among 146 patients, CD95 G-1377A (rs2234767) SNP carriers frequencies h as been identified as 25% GA (n:37) and AA 4% (n:6), respectively. This polymorphism of the distribution of the CD95 gene in acute leukemic children will be a guide for future studies.