Insertion/deletion polymorphisms

Keavney B, McKenzie C, Parish S, Palmer A, Clark S, Youngman L et al. Large-scale test of hypothesised associations between the angiotensin-converting-enzyme insertion/deletion polymorphism and myocardial infarction in about 5000 cases and 6000 controls. International Studies of Infarct Survival (ISIS) Collaborators. Lancet 2000 355 434—442. 

Rigat B, Alhenc-Gelas F, Cambien F, Soubrier F. An insertion/deletion polymorphism in the angiotensin I-convert-ing gene accounting for half the variance of serum levels. J Clin Invest 1990 86 1343-1346. 

Prasad A, Narayanan S, Husain S, Padder F, Waclawiw M, Epstein N, Quyyumi AA. Insertion-deletion polymorphism of the ACE gene modulates reversibility of endothelial dysfunction with ACE inhibition. Circulation 2000 102 35-41. 

Murphey LJ, Gainer JV, Vaughan DE, Brown NJ. Angiotensin-converting enzyme insertion/deletion polymorphism modulates the human in vivo metabolism of bradykinin. Circulation. 2000 102 829-832. 

Gainer JV, Stein CM, Neal T, Vaughan DE, Brown NJ. Interactive effect of ethnicity and ACE insertion/deletion polymorphism on vascular reactivity. Hypertension 2001 37 46-51. 

Prasad A, Narayanan S, Waclawiw MA, Epstein N, Quyyumi AA. The insertion/deletion polymorphism of the angiotensin-converting enzyme gene determines coronary vascular tone and nitric oxide activity. J Am Coll Cardiol 2000 36 1579-1586. 

Montgomery H, Clarkson P, Barnard M, Bell J, Brynes A, Dollery C, Haj-nal J, Hemingway H, Mercer D, Jarman P, Marshall R, Prasad K, Rayson M, Saeed N, Talmud P, Thomas L, Jubb M, World M, Humphries S. Angioten-sin-converting-enzyme gene insertion/deletion polymorphism and response to physical training. Lancet 1999 353 541— 45. 

Myerson SG, Montgomery HE, Whit-TINGHAM M, JUBB M, WORLD MJ, Humphries SE, Pennelll DJ. Left ventricular hypertrophy with exercise and ACE gene insertion/deletion polymorphism - a randomized controlled trial with losartan. Circulation 2001 103 226-230. 

Lehmann, D.J., Cortina-Borja, M., Warden, D.R., et al. (2005) Large meta-analysis estab-hshes that ACE insertion-deletion polymorphism as a marker of Alzheimer s disease. Am. J. Epidemiol., 162,305-317. 

The processed mRNA transcribed from the human apoB gene contains 14,121 and 14,112 nucleotides (Cladaras /a/., 1986), depending on the presence or absence of a 9-nucleotide insertion/deletion polymorphism in the signal sequence (Boerwinkle and Chan, 1989). Messenger... 

Snapir A, Heinonen P, Tuomainen TP, et al. An insertion/deletion polymorphism in the a2B-adrenergic receptor gene is a novel genetic risk factor for acute coronary events. J Am Coll Cardiol 2001 37 1516-1522. 

O Toole L, Stewart M, Padfield P et al (1998) Effect of the insertion/deletion polymorphism of the angiotensin-converting enzyme gene on response to angiotensin-converting enzyme inhibitors in patients with heart failure. J Cardiovasc Pharmacol 32 988-994... 

Single Nucleotide Polymorphism Database (dbSNP) of Nucleotide Sequence Variation. URL http //www.ncbi.nlm. nih.gov/SNP/index.html. Uses SNP in the much looser sense of minor genetic variations and includes microsatellite repeats and small insertion/deletion polymorphisms. 

Insertion-deletion polymorphisms, in which a nucleotide or nucleotide sequence is either added to or deleted from a DNA sequence... 

Frameshift mutation, in which there is an insertion/deletion polymorphism, and the number of nucleotides added or lost is not a multiple of 3, resulting in disruption of the gene s reading frame... 

Montgomery, H., et al., Angiotensin-converting-enzyme gene insertion/deletion polymorphism and response to physical training [see comments]. Lancet, 1999. 353(9152) p. 541-... 

Figure 5.7-5. Single nucleotide polymorphisms and insertion/deletion polymorphisms. Two sections of a DNA strand are shown. The top of the figure shows a SNP, a single nucleotide difference between the two DNA strands (highlighted by a red nucleotide and the arrow). In the bottom diagram, one base is missing in the lower DNA strand (deletion polymorphism), leading to a frame shift in the DNA sequence. (This figure is available in full color at ftp //ftp.wiley.com/public/sci tech med/pharmaceutical biotech/.)...

Key Words 5 fluorogenic assay fluorogenic probes TaqMan allelic discrimination high-throughput genotyping insertion/deletion polymorphisms polymerase chain reaction. 

We thank Drs. David Beck and Donald Coppock for helpful discussions and for revising the manuscript. Figures 2A and 4A are reprinted from Robledo, R., Beggs, W., and Bender, P. (2003) A simple and cost-effective method for rapid genotyping of insertion/deletion polymorphisms. Genomics 82,580-582, with permission from Elsevier. This work was supported by funds from the NIGMS Contract NOl-GM-9-2101 and the Coriell Institute for Medical Research. 

Pramanik, S. and Li, H. (2002) Direct detection of insertion/deletion polymorphisms in an autosomal region by analyzing high-density markers in individual spermatozoa. Am. J. Hum. Genet. 71, 1342-1352. 

Robledo, R., Beggs, W., and Bender, P. (2003) A simple and cost effective method for rapid genotyping of insertion/deletion polymorphisms. Genomics 82, 580-582. 

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