DNA from a human-hamster hybrid cell line, 908-K1B17, containing a small terminal portion of the long arm of the human X chromosome as well as the pericentric region of 19q was used as starting material for the isolation of an X-chromosome-specific DNA segment, RN1 (DXS369), which identifies a XmnI RFLP. Linkage analysis in fragile X families resulted in a maximum lod score of 15.3 at a recombination fraction of 0.05 between RN1 and fra(X). Analysis of recombinations around the fra(X) locus assigned RN1 proximal to fra(X) and distal to DXS105. Analysis of the marker content of hybrid cell line 908K1B17 suggests the localization of RN1 between DXS98 and fra(X). Heterozygosity of DXS369 is approximately 50%, which extends the diagnostic potential of RFLP analysis in fragile X families significantly.

doi.org/10.1016/0888-7543(90)90457-6, hdl.handle.net/1765/56676
Department of Clinical Genetics

Oostra, B., Hogenbirk-Hupkes, P., Perdon, L., van Bennekom, C., Bakker, E., Halley, D., … van Oost, B. (1990). New polymorphic DNA marker close to the fragile site FRAXA. Genomics, 6(1), 129–132. doi:10.1016/0888-7543(90)90457-6