Snp Analysis In Coding And Noncoding Dna Regions

Within the chromosomal DNA, SNPs are highly abundant occurring on average 1 base in every 1000.[11,12] As the human genome is now known to be around 3 billion bases

DNA SNP on the mitochondrial DNA

Fig. 2 Analysis of two SNP loci on the human mitochondrial genome. (Taken from research work by Dr. Barbara Llewellyn at the University of Strathclyde.) The top panel shows the results of hybridization of a segment of DNA mitochondrial DNA to oligonucleotide sequences on a silicone chip. The position on the chip where the DNA binds to a complimentary sequence is detected by fluorescence. The bottom panel shows the amount of fluorescence at the two sites. (View this art in color at www.dekker.com.)

of genes, such as in promoter sequences, may influence the susceptibility of individuals to particular disorders. The majority of SNPs are considered to have no known effect on the fitness of the organism; however, those SNP loci that affect the fitness of the organism have been the focus of interest to the medical community. The field of medical genetics has recently started to develop a number of diagnostic tests based upon single base-pair mutations in the human genome. A number of genetic diseases are the result of such single base-pair mutations, such as cystic fibrosis and beta thalassaemia.[14,15] In parallel to the investment made in STRs by the forensic community, genetic diagnostics has focused on many such single point mutations. When the mutation becomes a common type, with the rarer allele at more than 1% of the frequency of the common allele, such loci are termed SNPs.[16]

Forensic science reacts to developments in other areas of science, frequently adapting techniques developed for nonforensic purposes. While DNA profiling is no exception, the analysis of STR loci has been highly successful. Tiny bloodstains can be examined and a DNA profile can be produced that has a match probability greater than 1 in a billion to a suspect. There has been much investment in the STR loci, particularly in the formation of DNA databases of felons. However, SNP analysis offers many advantages in the field of diagnostic analysis.

Fig. 2 Analysis of two SNP loci on the human mitochondrial genome. (Taken from research work by Dr. Barbara Llewellyn at the University of Strathclyde.) The top panel shows the results of hybridization of a segment of DNA mitochondrial DNA to oligonucleotide sequences on a silicone chip. The position on the chip where the DNA binds to a complimentary sequence is detected by fluorescence. The bottom panel shows the amount of fluorescence at the two sites. (View this art in color at www.dekker.com.)

in size, there are therefore approximately 3 million SNPs within the human genome. To date, the International SNP Map Working Group has identified 1.42 million SNPs distributed throughout the human genome.[13] The SNP loci examined in forensic science are within the 97% of the human genome that is noncoding. Single nucleotide polymorphisms that are present within coding regions of the DNA may have an effect on the protein transcribed by the gene and result in a genetic disorder. As such, SNPs that cause a genetic disorder are of key interest to the medical community. These SNPs may be dominant or recessive and are responsible for a number of key genetic disorders. Additionally, SNPs within the regulator region

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

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