Tandem repeat polymorphisms

A second relevant enzyme to 5-FU metabolism is thymidylate synthetase (TYMS). If this enzyme is complexed with 5-FU metabolites along with 5,10-methylene-tetrahydrofolate, it cannot maintain a thymidine-5 -monophosphate pool required for DNA replication and repair. A tandem repeat polymorphism in the 5 -promoter region of the TYMS gene can increase enzyme expression (85,86). Tumors carrying the repeats have higher enzyme expression, resulting in lower response to chemotherapy compared to wild type (87). 

Mandola MV, Stoehlmacher J, Muller-Weeks S et al. A novel single nueleotide polymorphism within the 5 tandem repeat polymorphism of the thymidylate synthase gene abolishes USF-1 binding and alters transeriptional aetivity. Cancer Res 2003 63 2898-2904. 

Forensic analysis of DNA samples DNA fingerprinting by means of PCR has revolutionized the analysis of evidence from crime scenes. DNA isolated from a single human hair, a tiny spot of blood, or a sample of semen is sufficient to determine whether the sample comes from a specific individual. The DNA markers analyzed for such fingerprinting are most commonly short tandem repeat polymorphisms (STRs). These are very similar to the VNTRs described previously (see p. 455), but are smaller in size. [Note Verification of paternity uses the same techniques.]... 

There are several major types of DNA sequence variation in the human genome. One type comprises repeated sequences with variations in the number of repeat units, such as short tandem repeat polymorphisms (STRPs, also known as microsatellites) in the form of mono-, di-, tri-, and tetra-nu-cleotide repeats, or more complex sequence repeats such as variable number tandem repeats (VNTRs) [2-4]. Repeat polymorphisms are relatively... 

Dubovsky, J., et al., Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome. Hum Mol Genet, 1995. 4(3) p. 449-52. 

Itoga, S., F. Nomura, Y. Makino, T. Tomonaga, H. Shimada, T. Ochiai et al. (2002). Tandem repeat polymorphism of the CYP2E1 gene An association study with esophageal cancer and lung cancer. Alcohol. Clin. Exp. Res. 26, 15S-19S. 

Getting W S, et al. (1995). Linkage analysis with multiplexed short tandem repeat polymorphisms using infrared fluorescence and M13 tailed primers. Genomics. 30(3) 450-458. 

DNA fingerprinting was developed for individualization system in 1985. Analyses using DNA profiling with variable numbers of tandem repeat polymorphism has been carried out for identification of forensic samples such as bloodstains and sectional stains. Concerning forensic hairs, several DNA analyses of hair root sheath cells have been reported. However, DNA analysis of a hair shaft has not succeed to date, because DNA recovery from a hair shaft is in order of tens of picograms and only low molecular weight DNA (below 200 base pairs (bp)) is left in the hair shape. Recently, microsatellite DNA polymorphism has been detected by the polymerase chain reaction technique. This polymorphism can be applied to DNA analysis of hair shaft. If DNA analysis is combined with microscopic and instrumental analysis in forensic examination, hair individualization can be more accurate. 

Hahner, S., Schneider, A, Ingendoh, A., and Mosner, J. (2000) Analysis of short tandem repeat polymorphisms by electrospray ion trap mass spectrometry. Nudeic Acids Res., 28,18. 

Ross, P.L. and Belgrader, P. (1997) Analysis of short tandem repeat polymorphisms in human DNA by matrix-assisted laser desorption/ ionization mass spectrometry. Anal. Chem., 69 (19), 3966-3972. 

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