DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene

Journal Article · Fri Jul 15 00:00:00 EDT 1994 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320510437· OSTI ID:62054

Vries, B B.A. de; Bakker, P L.G.; Deelen, W H; Graaff, E de; Hemel, J.O. van; Oostra, B A; Niermeijer, M F; Halley, D J.J. ^[1]

---

1. Erasmus Univ., Rotterdam (Netherlands)

The cloning of the FMR-1 gene and the identification of an expanded CGG repeat in DNA of fragile X patients has made reliable DNA diagnosis feasible. Southern blotting and PCR assays of the CGG repeat in an unselected series of 236 mentally retarded subjects resulted in the identification of 10 new fragile X families. Reevaluation of previously assessed fragile X families resulted in the first observation of the presence of a reversal of mutation in the FMR-1 gene. 21 refs., 1 fig., 1 tab.

• Sponsoring Organization: USDOE
• OSTI ID: 62054
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 51; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
DNA
DNA-CLONING
GENE MUTATIONS
GENES
HEREDITARY DISEASES
HUMAN X CHROMOSOME
MENTAL DISORDERS
PATIENTS
PHENOTYPE
POLYMERASE CHAIN REACTION