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SNP Genotypoing

What are SNPs?

SNP is an acronym for Single Nucleotide Polymorphism. An SNP is a common but minute variation found in human DNA, and most variations between individuals are of this type. These variations occur at a rate of one in every 1000 bases. It is estimated that there are 10 million common positions of SNPs along the 3 billion base pair genome. SNPs allow tracking of inheritance in families and some may have a functional importance and change the way a genome behaves. A small fraction may also play a role in susceptibility to disease.

What are some SNP detection methods used?

Commonly used methods for SNP detection include:

  • SSCP (Single-Stranded Conformational Polymorphism - a method for distinguishing between similar sized DNA fragments using gel electrophoresis).
  • Heteroduplex Analysis (the study of the mobilities of heteroduplex DNA under polyacrilamide gel electrophoresis)
  • Sequencing (determination of the order of base sequences in a DNA or RNA molecule)
  • Various DNA assays

These methods involve basic reactions, such as hybridization, primer extension, and cleavase.

What are the benefits of using RAM/HSAM in SNP detection?

RAM/HSAM offers great advantages in SNP analysis over the above-mentioned methods. Using ligation to detect SNPs improves assay sensitivity and reliability. Also, the discrimination power can be 100 to 1000-fold better than with the conventional methods. Modified RAM (long-range RAM) can amplify the target sequence allowing detection of large numbers of SNPs in one amplification reaction. The multiplex capability of RAM/HSAM allows high throughput detection of SNPs and, due to the amplification power of RAM/HSAM, only small number of cells or a minute amount of sample material is required for SNP detection. Thus, the technique can be used in clinical settings where only a limited number of cells can be obtained (as in the case of fetal cells in maternal blood, rare cancer cells or cerebrospinal fluid samples). Furthermore, the assay format can be much simpler and less costly than other assays.

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