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Alu sequence that has been explored in this experiment is among these sequences. This DNA sequence is approximately 300 base pairs long that is seen to be repeated for about 500,000 times throughout the entire human genome. It is not yet known what function they play as well as their origin (Olson et al., 1989).These Alu sequences are known to possess characteristics that are critical to the geneticists. They are usually present within introns of a given genes, and they might be associated either with a disease or can be utilized in the estimation of relatedness between and among individuals (Deininger, 1989).
In this experiment, there was analysis of a single Alu repeat and it was utilized in the estimation of its frequency in the class population as well as a basic molecular genetic variation measure. This was with no reference to relatedness between individuals or to disease. Figure 1 indicates the types of repetitive DNA in human genome An Alu sequence that was considered in this laboratory activity is located at PV92 region of chromosome 16. This specific Alu sequence is dimorphic, implying that it is present in some people but absent in other.
Some individuals are known to possess the insert in either of the chromosome 16 copy (one allele), others may possess the insert in both of the chromosome 16 copies (two alleles). . It will be 941 base pairs long only if there is Alu. This size increase is as a result of the 300 base pair sequence that is attributed to the Alu insert (Hollstein MC et al., 1991). There are 3 distinct outcomes that are probable when the products of PCR are electrophoresed on an agarose gel. If there is an Alu inserts on both chromosomes, each amplified PCR product will be 941 base pairs long.
They tend to migrate at the same speed on a gel so in regards to this, one band will be visible which corresponds to 941 base pairs. If it is observed that neither of the chromosome posses the insert, then it means that each amplified product of PCR is 641 base pairs and they are supposed to migrate as one band corresponding to 641 base pairs. If an Alu insert is present on one chromosome but absent on the other, then it implies that one PCR product of 641 base pairs will be observed as well as one of 941 base pairs.
Two bands will be revealed by the gel for such given sample. The 941 bp and 641 bp were separated basing on their sizes. As it is known that Alu repeats inserts themselves randomly in human genome. In relation to this, the Alu insert located in PV92 locus is very important in studies of genotype and allele frequencies in the human population. In the exercise done in the laboratory, the principles of the Hardy-Weinberg theory were applied in the analysis of the Alu insert allelic and genotypic frequencies in the population (Saiki RK et al., 1988). This was also to test the hypothesis that the class population alleles fit the prediction model of Hardy-Weinberg for genotype equilibria.
By determining the Alu genotype genotypic frequencies within the student population, the corresponding allelic frequencies were as well calculated.
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