title: Direct mutation analysis of 495 patients for fragile X carrier status/proband diagnosis.
abstract: 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.
authors.affiliation: Vivigen/Integrated Genetics, Santa Fe, NM 87505.
authors.forename: G
authors.initials: G
authors.lastname: Kaplan
authors.forename: M
authors.initials: M
authors.lastname: Kung
authors.forename: M
authors.initials: M
authors.lastname: McClure
authors.forename: A
authors.initials: A
authors.lastname: Cronister
mesh_terms: D015139:Blotting, Southern; D004252:DNA Mutational Analysis; D015342:DNA Probes; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics*; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D015342:DNA Probes