Two statistical tests for meiotic breakpoint analysis.

Abstract

Meiotic breakpoint analysis (BPA), a statistical method for ordering genetic markers, is increasing in importance as a method for building genetic maps of human chromosomes. Although BPA does not provide estimates of genetic distances between markers, it efficiently locates new markers on already defined dense maps, when likelihood analysis becomes cumbersome or the sample size is small. However, until now no assessments of statistical significance have been available for evaluating the possibility that the results of a BPA were produced by chance. In this paper, we propose two statistical tests to determine whether the size of a sample and its genetic information content are sufficient to distinguish between "no linkage" and "linkage" of a marker mapped by BPA to a certain region. Both tests are exact and should be conducted after a BPA has assigned the marker to an interval on the map. Applications of the new tests are demonstrated by three examples: (1) a synthetic data set, (2) a data set of five markers on human chromosome 8p, and (3) a data set of four markers on human chromosome 17q.