作者: J. Buard , G. Vergnaud
DOI: 10.1002/J.1460-2075.1994.TB06619.X
关键词: Germline mutation 、 Biology 、 Locus (genetics) 、 Minisatellite 、 Germline 、 Recombination 、 Allele 、 Sister chromatids 、 Genetics 、 Mutation rate
摘要: Some minisatellite structures are the site of high rates DNA recombination in non-pathological situations, with an excess motif insertion events and a locus-dependent sex-specific mutation bias. We previously reported cloning hypermutable locus CEB1 (D2S90), remarkable for its 13% rate male germline (compared to approximately 0.4% female). have sought analyse mechanisms underlying addition or deletion motifs at this using variant repeat mapping technique. This is possible precision due extreme sequence polymorphism seen between different motifs. No crossing-over event was observed among 38 informative neomutations. Four 19 mutant alleles interallelic events, others intra-allelic. Overall, mutations spread along alleles, although subset shows clustering towards analysed end. The apparently complex can all be interpreted as succession elementary duplications-deletions inter- well intra-chromosomal origin, suggesting model which sister chromatid conversion-like exchanges involved these processes.