PFA the details.
Word-count - 2000 - 3000
The research project is about the Copy Number variation of Carboxylesterase CES1 gene. Gene copy number variation, where different individuals have different numbers of the same gene, is an extensive source of variation between different individuals, with a higher mutation rate than single DNA nucleotides. The extent to which it contributes to disease susceptibility and recent human evolution is unclear. A recent study comparing genomes of different human populations across the world suggested that a copy number variation involving the CES1 (liver carboxylesterase 1) gene shows the largest difference in copy number between different populations. Liver carboxylesterase 1 is involved in the metabolism of cocaine, heroin and several pharmaceutical drugs, including glycovir (an anti-HIV1 drug), aspirin and dabigatran etexilate (an anticoagulant) involved in prevention of stroke in individuals with atrial fibrillation. Liver carboxylesterase 1 is also involved in the invasion of P.falciparum into the liver.
Aims & Objectives:
1. Develop a robust molecular genetic assay for CES1 copy number.
2. Predict and investigate the effect of copy number on gene structure and expression.
3. Predict and investigate the duplications between UK Caucasians and find the frequency of duplicated alleles.
What I have done?
I have designed PRT assays to measure the copy number of CES1 gene. You will find the principle of the PRT in the introduction. I have design two PRT assay including : cis_PRT and trans_PRT. Only cis_PRT has worked and measure the copy number precisely when I applied it on known copy number positive controls. trans_PRT did not work and I excluded it from the experiment. I have run the cis_PRT assay on 5 positive controls and 34 samples from UK Caucasians. I have found that 9 samples from UK Caucasians have duplications as shown in the result. 8 out of 9 have heterozygote duplication alleles, while one have homozygote duplication allele.
What I want from you?
In the result part, if you could calculate the frequency of duplications between UK Caucasians and also calculate the frequency of heterozygote duplication alleles and the frequency of homozygote duplication allele. If you could apply the Hardy-Weinberg equation to calculate the frequency of those duplications alleles and then write the DISCUSSION PART.