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Factors involved in the stability of trinucleotide repeats during transmission were studied in 139 families in which a full mutation, premutation or intermediate allele at either  FRAXA  or  FRAXE  was segregating. The transmission of alleles at  FRAXA, FRAXE  and four microsatellite loci were recorded for all individuals. Instability within the minimal and common ranges (0–40 repeats for  FRAXA , 0–30 repeats for  FRAXE ) was extremely rare; only one example was observed, an increase in size at  FRAXA  from 29 to 39 repeats. Four  FRAXA  and three FRAXE alleles in the intermediate range (41–60 repeats for  FRAXA , 31–60 repeats for  FRAXE ) were unstably transmitted. Instability was more frequent for  FRAXA  intermediate alleles that had a tract of pure CGG greater than 37 although instability only occurred in two of 13 such transmissions: the changes observed were limited to only one or two repeats. Premutation  FRAXA  alleles over 100 repeats expanded to a full mutation during female transmission in 100% of cases, in agreement with other published series. There was no clear correlation between haplotype and probability of expansion of  FRAXA  premutations. Instability at  FRAXA  or  FRAXE  was more often observed in conjunction with a second instability at an independent locus suggesting general genomic instability as a possible mechanism by which at least some  FRAXA  and  FRAXE  mutations arise.

The Role of Size, Sequence and Haplotype in the Stability of FRAXA and FRAXE Alleles during Transmission