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6. Probability, Stochastic Analysis, and Mathematical Statistics

Statistical Methods in the Study of Human Genetic Diversity based on Y-Chromosome Analysis

Ramona Hodişan
University of Oradea, Oradea, Romania

Abstract:

Population genetics studies the human evolution by researching the genetic diversity of populations. Besides the DNA typing process, the statistical interpretation of the data is essential. The purpose of this study is to present and exemplify the traditional methods of calculating the main statistical parameters used in the study of Y chromosome diversity. After the DNA extraction and quantification steps, the amplification through PCR technique, the separation and detection of repetitive sequences alleles (short tandem repeats – STR), the analyses and the statistical interpretation step follows. The statistic measures can be generated by a computer program, but they can be calculated in a traditional way also, using classic formulas. The first step in statistical analysis is to centralize the data into frequency tables, afterwards the calculations are performed to determine heterozygosity, the diversity of genes and haplotypes. In order to estimate the rarity of a DNA profile, the random match probability is calculated, the probability ratio, together with the inclusion and the exclusion probability. The application and understanding of the statistical concepts in the study of population diversity helps to describe and to understand the population structures. Joint work with Marius Bembea.