| Haplotype and AGG interspersion analysis of FMR1 alleles in a Croatian population: no founder effect detected in patients with fragile X syndrome. | |
| | |
MedLine Citation:
|
PMID: 19341325 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Several studies have suggested that fragile X syndrome (FRAXA), the most common inherited form of mental retardation, originated from a limited number of founder chromosomes. The aim of this study is to assess the genetic origin of fragile X syndrome in a Croatian population. We performed a haplotype analysis of the polymorphic loci DXS548 and FRAXAC1 in 18 unrelated fragile X and 56 control chromosomes. The AGG interspersion pattern of the FMR1 CGG repeat region was analyzed by sequencing. This is the first report on haplotype and AGG interspersion analysis of the fragile X syndrome gene in a Croatian population-the only eastern European population of Slavic origin analyzed so far. Our findings are intriguing, because they show a distinct distribution of the DXS548 and FRAXAC1 alleles in our fragile X population compared to other European fragile X populations. The DXS548/FRAXAC1 haplotype 194/154 (7-3), which is common among normal populations, was found to be the most frequent haplotype in our fragile X population as well. The AGG interspersion analysis indicated that AGG loss rather than haplotype may determine FMR1 allele instability. Our results suggest that no common ancestral X chromosome is associated with fragile X syndrome in the Croatian population studied. Further analysis of the origin of fragile X syndrome among other Slavic populations will be necessary to better define its eastern European distribution. |
| | |
Authors:
|
H Dokić; I Barisić; V Culić; B Lozić; S Hećimović |
Related Documents
:
|
20430935 - Advances in understanding the molecular basis of fxtas. 19117905 - Advances in the treatment of fragile x syndrome. 7688265 - The protein product of the fragile x gene, fmr1, has characteristics of an rna-binding ... 10966035 - Transient horner's syndrome in a trauma patient with thoracic epidural analgesia: a cas... 8906375 - Tethered cord syndrome presenting as a nonhealing cutaneous ulcer. 15645695 - Infantile hyperinsulinism associated with enteropathy, deafness and renal tubulopathy: ... |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: Human biology Volume: 80 ISSN: 0018-7143 ISO Abbreviation: Hum. Biol. Publication Date: 2008 Oct |
Date Detail:
|
Created Date: 2009-04-03 Completed Date: 2009-06-18 Revised Date: 2011-04-18 |
Medline Journal Info:
|
Nlm Unique ID: 0116717 Medline TA: Hum Biol Country: United States |
Other Details:
|
Languages: eng Pagination: 581-7 Citation Subset: IM |
Affiliation:
|
Division of Molecular Medicine, Ruder Bosković Institute, Zagreb, Croatia. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Alleles Case-Control Studies Croatia Fragile X Mental Retardation Protein / genetics* Fragile X Syndrome / genetics* Gene Frequency Genetic Markers Genetics, Population / statistics & numerical data* Genotype Haplotypes / genetics* Humans Male Microsatellite Repeats / genetics |
| Chemical | |
Reg. No./Substance:
|
0/FMR1 protein, human; 0/Genetic Markers; 139135-51-6/Fragile X Mental Retardation Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Distribution of hemoglobin phenotypes in four different districts of Porto Velho, Rondônia, Brazil.
Next Document: An advanced filter-feeder hypothesis for urochordate evolution.