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SNP Detection of a 410bp Region of MTRR Promoter in Colorectal Adenoma Patients

CSEF · 2004 Biochemistry/ Molecular Biology

Stephanie A. Tse · Alhambra High School, Alhambra

Overview

Objectives/Goals Studies have shown low folate is associated with colorectal cancer precursor lesion (adenoma) development. The one-carbon cycle is a folate-dependent biochemical process important for DNA synthesis and methylation. Methionine synthase reductase (MTRR) is an enzyme responsible for restoring cobalamin activity, an important process in the one-carbon cycle. Defects in the MTRR gene are hypothesized to lower folate availability because of potential unwanted effects on MTRR enzyme efficiency. The purpose of this project is to analyze a 410bp region of the promoter for single nucleotide polymorphisms (SNPs), a single base pair change not yet considered a mutation, in samples with colorectal adenomas. Methods/Materials Denaturing High-Performance Liquid Chromatography (DHPLC) was used. Computer screening and direct sequencing protocols of 28 randomly-selected samples specialized for SNP detection were used. Results Results show a heterozygous 2479T##C/T SNP in the targeted region in the positive controls. In actual cases, 27% of the case showed similar peak formation as that of the positive control. Conclusions/Discussion Results suggesting that problems may occur on a transcriptional level, but the effect of the SNP will be studied in future research.

Summary statement

Detecting single nucleotide polymorphisms in the promoter region of patients with colorectal adenomas, precursor cancer lesions, to elucidate possible genetic factors to be studied for affect on colorectal cancer.

Help received

Dr. Robert Haile's Laboratory & Staff for equipment and guidance (USC/Norris); Dr. Yong Liu & Joan Levine, mentors; Daan Ren, DNA sequencing technician

Competition history

  • CSEF 2004 Biochemistry/ Molecular Biology · Entry S0428

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