DIRECT MUTATION ANALYSIS OF 495 PATIENTS FOR FRAGILE-X CARRIER STATUSPROBAND DIAGNOSIS

With the cloning of the FMR-1 gene, direct mutation analysis is possib le for fragile X syndrome. We have analyzed 495 patients using the StB 12.3 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 Brow n et al. [JAMA 270:1569-1575, 1993]. For 28 patients requesting carrie r status due to a family history of fragile X, 10 were shown to have e ither premutations or full mutations; for the remainder with varied ba ckgrounds, 1 in 182 was shown to carry a premutation. For proband diag nosis, 7 of 14 with a fragile X family history carried a full mutation ; 11 of 271 with other family histories carried the full mutation. (c) 1994 Wiley-Liss,Inc.