Abstract – Alu sequences are found throughout the karyotype of humans and new world primates. Newer sequences that are roughly around one million years old can used to analyze human history since they are not yet stable in the population. One of these sequences that are still evolving is the Alu sequence on the PV92 region of chromosome 16. In this experiment we analyzed 29 individuals at Cameron University to find out how frequent this sequence is and also to evaluate if this sequence followed Hardy-Weinberg equilibrium. DNA from each individual was amplified by 40 rounds of PCR, then ran on an 1% agarose gel for 45 minutes. The results show that this sequence is not in Hardy-Weinberg …show more content…
This is unusual since many transposable elements usually insert into gene and cause deleterious effects. These sequences are found only in new world primates, including humans, suggesting that these transposable elements evolved 25 MYA (Futuyma 2013).
The Alu sequences are considered defective retrotransposon since they need the assistance of another gene, such as the L1 gene in order to reverse transcribe itself. The L1 gene also helps cut the DNA in a specific sequence (-AATTTT) along the DNA for the Alu tail (-AAAA) to fit (ALU insertion polymorphism).
Alu sequences are stable in a population and once gained cannot be lost, they are passed down from parent to offspring and can become fixed in the population given enough time. The human genome contains up to 500,000 sequences of this mutation, some of these can potentially cause diseases (ALU insertion polymorphism).
Some of these sequences, that are not yet fixed in the population, can be used to analyze human history. These sequences used are still polymorphic can help to group related individuals together. These polymorphic sequences of Alu are new mutations that most likely developed in the last million years (Comas …show more content…
All samples contained 10 µl of Orange G loading dye. The gel ran for 30 minutes, checked then ran another 15 at 100 V, 50 mA. The gels were then examined under a UV light box. All information from each student, along with their ethnic background and sex, were entered into http://www.bioservers.org/bioserver/ database and a chi square was automatically analyzed. A Hardy-Weinberg test, (p+q)2=1, was analyzed to determine if this transposable sequence was in equilibrium or not, with the frequency for having the sequence being ‘p’ and the frequency for not having the sequence being ‘q’, on each allele.
Results – The class population in the 2016 Molecular class showed that the frequency for the Alu allele in the PV92 region of chromosome 16 was low (Table 2), and that most of the population was homozygous (-/-) for this particular sequence (Table 1). The population deviated from the Hardy-Weinberg equilibrium due to random chance alone (X2 = 0.27, P =