Amplification of Alu Insertion
Analysis of Amplification of Alu insertion polymorphism by PCR
Introduction
Alu elements have been accumulated in human genome throught mankind evolution, reaching over 1 million copies in genome. They are short, and repetitive DNA fragments found in primates. Each Alu element is known to have 300 base pairs in length. DNA repeats contribute to partial gene deletion or duplications in many cases of hereditary diseases.Alu insertion polymorphisms consists of absence or presence of Alu elements at a particular chromosomal location.(Novick et al,1993) They are typed by rapid PCR , which are stable polymorphisms. Newly inserted Alu elements rarely ever go trough deletion.(Stonekening, 1997)The presence of Alu element represent probability that different Alu elements would independently insert into the exact same chromosomal location is negligible. The theory of Hardy-Weinberg equilibrium gives the gene frequencies (proportions of all possible alleles at a given locus)of a given population in absence of evolution.For it to be present within a population,conditions must be met.No net mutations,No difference found in alllele selection, no movement of indivduals into or out of population.(Novick et al, 1993)Population must be infinitely large and mating must be comletely at random.I hypothesize that our class results wont be in equilibrium in regards to the abundance of TPA-25 element.(Stonekening, 1997) There are 2 alleles in this locus.The + allele that corresponds to the presence of TPA-25 while the – allele represents the absence of TPA-25 .The 3 possiblities of gentotypes. ++ homozygous for presence of TPA-25 /+- heterozygous for presence of TPA-25 and --homozygous for absence of TPA-25 (Stonekening, 1997).
Methods and Materials
Refer to lab manual (Department of Biology, 2012).
Discussion
Alu-TPA-25 is diallelic ;both alleles are distinguishable, two well separated bands of 400Bp (Alu-insertion) which 15 individuals in the class had and 100 Bp (no
Introduction
Alu elements have been accumulated in human genome throught mankind evolution, reaching over 1 million copies in genome. They are short, and repetitive DNA fragments found in primates. Each Alu element is known to have 300 base pairs in length. DNA repeats contribute to partial gene deletion or duplications in many cases of hereditary diseases.Alu insertion polymorphisms consists of absence or presence of Alu elements at a particular chromosomal location.(Novick et al,1993) They are typed by rapid PCR , which are stable polymorphisms. Newly inserted Alu elements rarely ever go trough deletion.(Stonekening, 1997)The presence of Alu element represent probability that different Alu elements would independently insert into the exact same chromosomal location is negligible. The theory of Hardy-Weinberg equilibrium gives the gene frequencies (proportions of all possible alleles at a given locus)of a given population in absence of evolution.For it to be present within a population,conditions must be met.No net mutations,No difference found in alllele selection, no movement of indivduals into or out of population.(Novick et al, 1993)Population must be infinitely large and mating must be comletely at random.I hypothesize that our class results wont be in equilibrium in regards to the abundance of TPA-25 element.(Stonekening, 1997) There are 2 alleles in this locus.The + allele that corresponds to the presence of TPA-25 while the – allele represents the absence of TPA-25 .The 3 possiblities of gentotypes. ++ homozygous for presence of TPA-25 /+- heterozygous for presence of TPA-25 and --homozygous for absence of TPA-25 (Stonekening, 1997).
Methods and Materials
Refer to lab manual (Department of Biology, 2012).
Discussion
Alu-TPA-25 is diallelic ;both alleles are distinguishable, two well separated bands of 400Bp (Alu-insertion) which 15 individuals in the class had and 100 Bp (no