Direct identification and cloning of unstable expanded (CCG){sub n} and (CTG){sub n} trinucleotide repeat loci from complex genomes

Journal Article · Fri Mar 31 23:00:00 EST 1995 · Russian Journal of Genetics

OSTI ID:75560

Rogaev, E ^[1]; Rogaeva, E A; George-Hyslop, P ^[1]

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1. Univ. of Toronto, Ontario (Canada)

We describe a simple method for the identification of pathologically expanded (CCG){sub n} and (CTG){sub n} trinucleotide repeat arrays in the human genome and for the recovery of flanking sequences. We were able to detect the presence of novel high-molecular-weight alleles in at least two of three subjects known to have expanded (CCG){sub n} tracts at the FRAXA locus. The above method may be used for testing small families or even single affected individuals with disease thought to display clinical evidence of anticipation. The (CCG){sub n>200} and (CTG){sub n>250} probes may also be useful for individual {open_quotes}DNA fingerprint{close_quotes} identifications. 5 refs., 3 figs.

• OSTI ID: 75560
• Journal Information: Russian Journal of Genetics, Journal Name: Russian Journal of Genetics Journal Issue: 4 Vol. 31; ISSN 1022-7954; ISSN RJGEEQ
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AMINO ACID SEQUENCE
DIAGNOSTIC TECHNIQUES
DNA HYBRIDIZATION
DNA-CLONING
GENES
GENETIC MAPPING
HUMAN CHROMOSOMES
HUMAN POPULATIONS
IDENTIFICATION SYSTEMS
MENTAL DISORDERS
NERVOUS SYSTEM DISEASES
NUCLEOTIDES
PATHOLOGICAL CHANGES
PATIENTS
PROBES