We have isolated II-10, a new X-chromosomal probe that identifies a highly informative two-allele TaqI restriction fragment length polymorphism at locus DXS466. Using somatic cell hybrids containing distinct portions of the long arm of the X chromosome, we could localize DXS466 between DXS296 and DXS304, both of which are closely linked distal markers for fragile X. This regional localization was supported by the analysis, in fragile X families, of recombination events between these three loci, the fragile X locus and locus DXS52, the latter being located at a more distal position. DXS466 is closely linked to the fragile X locus with a peak lod score of 7.79 at a recombination fraction of 0.02. Heterozygosity of DXS466 is approximately 50%. Its close proximity and relatively high informativity make DXS466 a valuable new diagnostic DNA marker for fragile X.

doi.org/10.1007/BF00200922, hdl.handle.net/1765/54435
Human Genetics
Department of Clinical Genetics

Hulsebos, T., Oostra, B., Broersen, A., Smits, A., van Oost, B., & Westerveld, A. (1991). New distal marker closely linked to the fragile X locus. Human Genetics, 87(3), 369–372. doi:10.1007/BF00200922