| Prevalence of the fragile X syndrome in African-Americans. | |
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MedLine Citation:
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PMID: 12116230 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Since the development of a molecular diagnosis for the fragile X syndrome in the early 1990s, several population-based studies in Caucasians of mostly northern European descent have established that the prevalence is probably between one in 6,000 to one in 4,000 males in the general population. Reports of increased or decreased prevalence of the fragile X syndrome exist for a few other world populations; however, many of these are small and not population-based. We present here the final results of a 4-year study in the metropolitan area of Atlanta, Georgia, establishing the prevalence of the fragile X syndrome and the frequency of CGG repeat variants in a large Caucasian and African-American population. Results demonstrate that one-quarter to one-third of the children identified with the fragile X syndrome attending Atlanta public schools are not diagnosed before the age of 10 years. Also, a revised prevalence for the syndrome revealed a higher point estimate for African-American males (1/2,545; 95% CI: 1/5,208-1/1,289) than reported previously, although confidence intervals include the prevalence estimated for Caucasians from this (1/3,717; 95% CI: 1/7,692-1/1,869) and other studies. Further population-based studies in diverse populations are necessary to explore the possibility that the prevalence of the fragile X syndrome differs among world populations. |
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Authors:
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Dana C Crawford; Kellen L Meadows; James L Newman; Lisa F Taft; Elizabeth Scott; Mary Leslie; Lisa Shubek; Patricia Holmgreen; Marshalyn Yeargin-Allsopp; Coleen Boyle; Stephanie L Sherman |
Publication Detail:
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Type: Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: American journal of medical genetics Volume: 110 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 2002 Jul |
Date Detail:
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Created Date: 2002-07-12 Completed Date: 2002-10-08 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: United States |
Other Details:
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Languages: eng Pagination: 226-33 Citation Subset: IM |
Copyright Information:
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Copyright 2002 Wiley-Liss, Inc. |
Affiliation:
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Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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African Continental Ancestry Group
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genetics* Alleles Child Female Fragile X Mental Retardation Protein Fragile X Syndrome / epidemiology, genetics* Gene Frequency Humans Male Mutation Nerve Tissue Proteins / genetics Prevalence RNA-Binding Proteins* Trinucleotide Repeats / genetics United States / epidemiology |
| Grant Support | |
ID/Acronym/Agency:
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HD29909/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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