Estimation of t(11;22) Rearrangement Frequency
Using the data shown in Table 1, the frequency of de novo t(11;22)s was estimated
statistically. Taking into consideration that at this DNA concentration, one positive
aliquot could contain more than one translocation product, we can define three variables;
n = number of haploid genomes per aliquot,
q = the probability that one randomly selected haploid genome in a given aliquot
sustained a translocation,
p = the probability that an aliquot contains a translocation product.
The probability that one, two, three, …...n genome equivalents have a translocation,
follows a binomial distribution, since each trial is identical and independent. Hence, to
calculate the frequency of de novo translocation events we employed the following
n
binomial probability distribution equation; p = 1-(1-q) . The frequency of positive PCR
reactions obtained in one experiment corresponds to p. Using 100ng of DNA as a PCR
template, each PCR reaction contains 33,000 haploid human genomes (n). For example,
in the case of the first experiment for SP1; n=33,000, p=7/22. Thus, the translocation
frequency (q) can be calculated by solving the equation.