Allele Size Differences Research Articles

Nine polymorphic microsatellite loci in the rabbit, Oryctolagus cuniculus.

Other comments: Chromosomal location is unknown for the nine markers. The loci containing imperfect repeats (namely Sat4, Sat5 and Sat8) showed the greatest variability in allele size. Mutations leading to such differences in number of repeats probably involve processes other than mispairing slippage, which generates convergent mutations less frequently. Differences in allele size of Nine polymorphic microsatellite loci in the rabbit, Oryctolagus cuniculus F Mougel, J-C Mounolou, M Monnerot Centre National de la Recherche Scientifique, Centre de Genetique Moleculaire, 91198 Gif sur Yvette Cedex, France

A test of allelic independence based on distributions of allele size differences at microsatellite loci.

Thousands of polymorphic microsatellite loci are now mapped in the human genome, most of which exhibit a large number of segregating alleles. For forensic, evolutionary and gene mapping applications, it is important to establish intralocus allelic independence at these loci. We develop a test for intralocus allelic independence based on repeat size differences between alleles within genotypes of individuals, and show its relationship with the intraclass correlation of allele sizes within loci. Applications of this test to 13 short tandem repeat loci in 4 subpopulations indicate that the distribution of size differences of alleles has adequate power to detect intralocus dependence of alleles caused by population substructure. In addition, size differences between randomly chosen alleles provide information regarding heterozygosity and contiguity of allele sizes at the locus, which by themselves do not necessarily indicate the presence of population substructure.