The role of recombination in the evolvement of the fragile X mutation.

The frequency of recombination in the regions adjacent to the fragile X locus was studied in two groups of carriers: daughters of transmitting males and transmitters of maternally inherited fragile X chromosomes. Approximately one-half of the offspring of the former and one quarter of the offspring of the latter are recombinant. Recombinants and parentals are equally distributed among affected and normal offspring in the two groups. These results indicate that crossing-over at or around the fragile X locus occurs in every meiosis in daughters of transmitting males, although the recombinant chromatids do not necessarily carry the fragile X mutation. Hence, crossing-over is unequivocally associated with, but is not the direct cause of, the transition from the primary genetic lesion to the final mutation.