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

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Summary

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 off-spring of the latter are recombinant. Recombinants and parentals are equally distributed among affected and normal off-spring in the two groups. These results indicate that crossing-over at or around the fragile X locus occurs in every meiosis in doughters 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.

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Authors and Affiliations

  1. Department of Human Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel

    Tamar Schaap

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  1. Tamar Schaap
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Schaap, T. The role of recombination in the evolvement of the fragile X mutation. Hum Genet 82, 79–81 (1989). https://doi.org/10.1007/BF00288278

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  • DOI: https://doi.org/10.1007/BF00288278

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