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Posted 115 Days Ago by Hitesh Shukla

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Did you ever wonder how a simple saliva sample can give you so much information? How can a drop of saliva indicate how long it takes your body to process caffeine? Or perhaps how depositing your saliva sample into a tube can be analysed to give you the likelihood of developing certain inherited conditions? ...the answer is Genotyping and it has certainly become one of our greatest friends over the years.

Genotyping is a laboratory process involved in determining genetic variations of single nucleotide polymorphisms (SNPs) within one's unique DNA which can be isolated from blood or saliva samples. DNA is a molecule holding one's genetic instructions used for growth, development, functioning and reproduction. A SNP is a variation in a single DNA building block known as a nucleotide, which can consist of Adenine (A), Thymine (T), Guanine (G) and Cytosine (C). ( Figure 1 ) Identifying variants or mutations within these building blocks can help locate genes associated with disease susceptibility, an individual's ability to metabolise nutrients and an individual's response to drugs (Be sure to check out one of our existing blogs “Personalised medicine”, by visiting our web page or clicking on the following link ).

Following DNA collection, your DNA is copied numerous times in a process known as polymerase chain reaction or PCR. Here at Rightangled, we use a variant of PCR known as Kompetitive Allele Specific PCR (KASP) Genotyping, a common and widely used technique enabling high accuracy (>99.8%) analysis of SNPs across a range of DNA samples. KASP genotyping has achieved its reputation for being the global benchmark genotyping platform and is favoured over other genotyping methods due to its numerous advantages in cost effectiveness and flexibility.

The cartoon above illustrates DNA base pairing in which the nucleotides bind to their respective base pairs, A with T, and C with G, this is known as complementary base pairing. Taking Sickle Cell Anaemia as our example, an inherited disorder characterised by abnormal haemoglobin (a protein carrying oxygen within blood cells). This abnormality causes red blood cells to lose their original shape and flexibility, giving rise to rigid and sickle-shaped red blood cells.

The original sequence ( left ) represents normal DNA resulting in normal protein coding and thus normal red blood cell production. A single mutation ( right ) results in a base change from T:A to C:A impacting the instructions for making certain proteins and therefore resulting in the production of abnormal or nonfunctional proteins. The absence of functioning proteins results in the development of sickle-shaped red blood cells.

Genotyping methods can be used to determine an individual's susceptibility to heritable conditions, responses to drugs and an individual's ability to metabolise certain nutrients. Certain genetic risk factors can be countered by adopting a healthier lifestyle and enabling better preparation for the future, while identifying problems early can become key in preventing the onset of heart disorders. Genotyping has certainly become a ‘friend in need’ and can make way for the introduction of appropriate interventions that would decrease the risk of heart disease.


Genotyping DNA analysis testing inherited hereditary drugs condition response diet nutrition A C T G DNA sequence markers SNP


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