Document Detail


Trinucleotide repeats at the FRAXF locus: frequency and distribution in the general population.
MedLine Citation:
PMID:  8844097     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
FRAXF, the third X-chromosomal fragile site to be cloned, has been shown to harbour a polymorphic compound triplet array: (GCCGTC)n (GCC)n. Expansion and methylation of the GCC-repeat and the neighbouring CpG-rich region result in chromosomal fragility. DNAs from 500 anonymous consecutive newborn males were examined to determine the incidence of various repeat numbers. The range of repeats was from 10-38, with the most common alleles having 14 (52.7%), 12 (16.6%), 21 (9.0%), and 22 (5.2%) triplets. Based on the distribution of repeat numbers, we suggest that the 21-repeat allele resulted from hairpin formation involving 7 GCC-repeats in a 14-repeat allele, accompanied by polymerase slippage. Examination of dinucleotide repeats near the FRAXF repeat will be important in testing this hypothesis. Since the clinical phenotype, if any, of FRAXF is unknown, this database will also be valuable for comparisons with repeat numbers in individuals from special populations.
Authors:
J J Holden; M Walker; M Chalifoux; B N White
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  64     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1996 Aug 
Date Detail:
Created Date:  1996-12-13     Completed Date:  1996-12-13     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  424-7     Citation Subset:  IM    
Affiliation:
Department of Psychiatry, Queen's University, Kingston, Ontario, Canada.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Fragile Sites
Chromosome Fragility*
Chromosome Mapping
DNA / blood
DNA Primers
Female
Gene Frequency
Humans
Infant, Newborn
Male
Microsatellite Repeats
Polymerase Chain Reaction
Trinucleotide Repeats*
X Chromosome*
Chemical
Reg. No./Substance:
0/DNA Primers; 9007-49-2/DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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