Sunday, October 25, 2020

Medical Genetics

Our lab used six polymorphic loci, DXS369, DXS297, DXS296, DXS304, IDS and DXS374 to map the fragile X FRAXA chromosome. We report the results of genetic linkage analysis of 32 fragile X [fra(X)] families using 12 polymorphic loci including these new markers. Cytogenetic and molecular data were combined in two-point linkage analysis for the estimation of lod scores and carrier probabilities in potential carriers. Use of these six new marker loci substantially changed the carrier risk estimates for members of 7 of the 32 families from the risk estimates previously calculated on the basis of less closely linked probes available prior to 1989.

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