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Title: Direct mutation analysis of 495 patients for fragile X carrier status/proband diagnosis

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. and 167 of these also with PCR analysis according to Brown et al. 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. 13 refs., 1 tab.
Authors:
; ; ;  [1]
  1. Vivigen/Integrated Genetics, Santa Fe, NM (United States)
Publication Date:
OSTI Identifier:
62055
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Medical Genetics; Journal Volume: 51; Journal Issue: 4; Other Information: PBD: 15 Jul 1994
Sponsoring Org:
USDOE
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN X CHROMOSOME; CHROMOSOMAL ABERRATIONS; GENE MUTATIONS; GENES; DNA-CLONING; PATIENTS; HEREDITARY DISEASES; MENTAL DISORDERS; PHENOTYPE; DNA; POLYMERASE CHAIN REACTION