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Hutchinson Gilford Progeria Syndrome Case Study

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Bioinformatics Project

Hutchinson Gilford progeria Syndrome

Robert Kelleghan
C15386361

DT204/2

Review of the disorder:

Hutchinson Gilford progeria syndrome is a rare genetic disorder associated with the accelerated aging in children. The children appear to be normal at birth, however, they begin to face difficulties within their first year of life as they grow slower than other children and fail to thrive (Hui et al, 2011). The affected individuals face many problems which are commonly associated with aging such as joint issues, cardiovascular problems and alopecia to name just a few. The affected children also have very distinctive facial features which give an overall senile appearance. It occurs sporadically and according to Hui et al (2011) it has “an incidence of 1 in 8 million live births” and is more often seen in Caucasian males. According to Eriksson et al (2001) this rare condition is caused by a de novo point mutation of the lamin A (LMNA) gene.

Symptoms:

Signs and symptoms of the disease generally develop within the first year of the individual’s life, but the age of onset can vary, as well as the severity of
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Restriction Map for normal LMNA.

Figure 14. Restriction map for Mutated LMNA (achieved through the same process to get the normal restriction map).

Figure 15. Comparison of the normal and mutated Restriction maps.

This comparison indicates the changes which occur due to the mutation as there is a complete lack of enzymes MwoI, HpyF10VI, Cac8I and Bs1I in the mutated version of the gene.

In order to diagnose this disease, a PCR must be ran. In order to do this there must be a forward and reverse primer.

Figure 16. Copy of the sequence used previously from NCBI copied into the website Primer 3.

It is important that the position affected by the disease is within these primers, i.e. position 1824. This can be ensured when using Primer 3, as seen in Figure 16.

Figure 17. Primers to use in
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