Document Detail


Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population.
MedLine Citation:
PMID:  8844098     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
To begin to understand the population dynamics of the fragile X (FRAXA) mutation and to learn more about the fragile X E (FRAXE) syndrome, we have initiated a surve of children in special needs education programs in the public school system. With respect to the FRAXA syndrome, we found approximately 1/1,000 full mutations among males. No large alleles at the FRAXE locus were observed among 462 individuals. The allele distributions at the two loci among Caucasians and among African Americans were examined as well as the level of heterozygosity. We found a significant difference in the FRAXA allele distribution among the two ethnic groups; the major difference was due to the lack of smaller alleles among the African Americans. No difference was found for the FRAXE allele distribution among the two groups. The level of heterozygosity was less than predicted by the allele distribution at both loci. This is probably due to unidentified large alleles among females with a test result of a single band. Alternatively, this excess may indicate that the population is not at equilibrium.
Authors:
K L Meadows; D Pettay; J Newman; J Hersey; A E Ashley; S L Sherman
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
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:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  428-33     Citation Subset:  IM    
Affiliation:
Department of Genetics and Molecular Medicine, Emory University, Atlanta, Georgia 30322, USA.
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MeSH Terms
Descriptor/Qualifier:
African Americans
African Continental Ancestry Group
Alleles
Child
Chromosome Fragility*
Education, Special*
European Continental Ancestry Group
Female
Fragile X Syndrome* / epidemiology,  genetics
Georgia
Health Services Needs and Demand
Humans
Incidence
Male
Mental Retardation* / epidemiology,  genetics
Polymerase Chain Reaction
Sex Chromosome Aberrations* / epidemiology,  genetics
X Chromosome
Grant Support
ID/Acronym/Agency:
HD29909/HD/NICHD NIH HHS

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


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