Complex gene conversion events in germline mutation at human minisatellites

摘要: Mutation at the human minisatellites MS32, MS205 and MS31A has been investigated by characterizing mutant alleles in pedigrees case of MS32 direct analysis molecules single sperm. Most mutations all three loci are polar, involving preferential gain a few repeat units one end tandem array. Incoming repeats can be derived from same allele or homologous chromosome, though they frequently rearranged during mutation. Lack exchange flanking markers suggests involvement complex conversion–like events generation alleles. At high frequency mutation processes sperm appear to largely germline specific occur constant rate irrespective size. Together with mutational polarity, this implies that instability is controlled elements outside