Polymorphisms, DNA

TABLE 4.5 Helical parameters for polymorphic DNA secondary structures 

Stmct Type Resid/ turn Twist (t/°) Displace (D/A) Rise (A) TUt (T°) Groove width (A) minor major Groove depth (A) minor Major  

Notes 1. All are right-handed helices except Z-DNA, which is left-handed helix. 

Three major forms of DNA helical structures (secondary structures) have been found and well-studied are B, A, and Z 

Glycosidic bond configuration dA, dX dC anti anti anti 

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R. Sanders, M. Alt, K, Groppe, T. Boiler, and A. Wiemken, Identification of ribosomal DNA polymorphisms among and within spores of the Glomules application to studies on the genetic diversity of arbuscular mycorrhizal fungal communities. New Phytol. /30 419 (1995). 

Zapico I, Coto E, Rodriguez A, Alvarez C, Torre JC, Alvarez V. CCR5 (chemokine receptor-5) DNA-polymorphism influences the severity of rheumatoid arthritis. Genes Immun 2000 l(4) 288-289. 

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Given the role of H. pylori infection in gastric cancer and duodenal ulcer disease, one must note that certain interleukin-1 gene cluster polymorphisms (suspected of increasing production of interleukin-1-/1) are associated with a predisposition to hypochlorhydria and gastric cancer [52]. One of these host DNA polymorphisms involves a TATA box. 

Aalto-Setala K, Kontula K, Manttari M, Huttunen J, Manninen V, Koski-nen P, et al. DNA polymorphisms of apolipoprotein B and AI/CIII genes and response to gemfibrozil treatment. Clin Pharmacol Ther 1991 50 208-214. 

Vedie B, Jeunemaitre X, Megnien JL, Atger V, Simon A, Moatti N. A new DNA polymorphism in the 5 untranslated region of the human SREBP-la is related to development of atherosclerosis in high cardiovascular risk population. Atherosclerosis 2001 154 589-597. 

Horie N, Aiba H, Oguro K et al. Functional analysis and DNA polymorphism of the tandemly repeated sequences in the 5 -terminal regulatory region of the human gene for thymidylate synthase. Cell Stmct Funct 1995 20 191-197. 

In forming the double-helix polymeric DNA structure, the two sugar-phosphate backbones twist around the central stack of base pairs, generating a major and minor groove. Several conformations, known as DNA polymorphs, are possible. 

A second variant detection strategy involves directed resequencing of selected genomic regions from different individuals, usually between 50 and 100 unrelated individuals. Many of these efforts have screened a subset of the DNA Polymorphism Discovery Resource collection, a set of 450 samples selected by the NIH to be a sample of the ethnic diversity of the U.S. popu-... 

Hudson, R. R. (1993). Levels of DNA polymorphism and divergence yield important insights into evolutionary processes. Proc. Natl. Acad. Sci. U.S.A. 90, 7425-7426. 

Some genetic changes are very rare others are common in the population. Genetic changes that occur in more than 1 percent of the population are called polymorphisms. They are common enough to be considered a normal variation in the DNA. Polymorphisms are... 

Mitchell RJ, Earl L, Bray P, Fripp YJ, Williams J. DNA polymorphisms at the lipoprotein lipase gene and their association with quantitative variation in plasma high-density lipoproteins and triacylglycerides. Human Biology 1994 66 38397. 

Klintschar, M., StiUer, D., Schwaiger, P., and Kleiber, M. (2005) DNA polymorphisms in the tyrosine hydroxylase and GNB3 genes association with unexpected death from acute myocardial infarction and increased heart weight. Forensic Sci. Int. 153, 142-146. 

Alvarez, R., Alvarez, V., Lahoz, C.H., et al. (1999) Angiotensin converting enzyme and endothelial nitric oxide synthase DNA polymorphisms and late onset Alzheimer s disease. J. Neurol Neurosurg. Psychiatry, 67, 733-736. 

Scacchi, R., De Bernardini, L., Mantuano, E., et al. (1998) DNA polymorphisms of apoUpo-protein B and angiotensin I-converting enzyme genes and relationships with Upid levels in Italian patients with vascular dementia or Alzheimer s disease. Dement. Geriatr. Cogn. Disord., 9, 186-190. 

Peticolas, W. L., Patapoff, T. W., Thomas, G. A., Postlewait, J., and Powell, J. W. 1996. Laser Raman microscopy of chromosomes in living eukaryotic cells DNA polymorphism in vivo. J. Raman Spectros. 27 571-78. 

Perez de Castro, I., A. Ibanez, P. Torres, J. Saiz-Ruiz, and J. Femandez-Piqueras, 1997. "Genetic Association Between Pathological Gambling and a Functional DNA Polymorphism at the D4 Receptor Gene." Pharmacogenetics 7 345-48. 

Whereas DNA polymorphisms should be recognizable by sequence differences, it is usually more convenient to detect these polymorphisms by differences in the size of DNA fragments obtained with restriction enzymes. Differences observed in this way are called restriction fragment length polymorphisms (RFLPs). 

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