Kaplan G, Kung M, McClure M, Cronister A
Vivigen/Integrated Genetics, Santa Fe, NM 87505.
Am J Med Genet. 1994 Jul 15;51(4):501-2. doi: 10.1002/ajmg.1320510441.
With the cloning of the FMR-1 gene, direct mutation analysis is possible for fragile X syndrome. We have analyzed 495 patients using the StB12.3 probe/EcoRI/EagI system of Rousseau et al. [N Engl J Med 325:1673-1681, 1991] and 167 of these also with PCR analysis according to Brown et al. [JAMA 270:1569-1575, 1993]. For 28 patients requesting carrier status due to a family history of fragile X, 10 were shown to have either premutations or full mutations; for the remainder with varied backgrounds, 1 in 182 was shown to carry a premutation. For proband diagnosis, 7 of 14 with a fragile X family history carried a full mutation; 11 of 271 with other family histories carried the full mutation.
