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| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Syrrou, M. | en |
| dc.contributor.author | Patsalis, P. C. | en |
| dc.contributor.author | Georgiou, I. | en |
| dc.contributor.author | Hadjimarcou, M. I. | en |
| dc.contributor.author | Constantinou-Deltas, C. D. | en |
| dc.contributor.author | Pagoulatos, G. | en |
| dc.date.accessioned | 2015-11-24T19:17:24Z | - |
| dc.date.available | 2015-11-24T19:17:24Z | - |
| dc.identifier.issn | 0148-7299 | - |
| dc.identifier.uri | https://olympias.lib.uoi.gr/jspui/handle/123456789/21775 | - |
| dc.rights | Default Licence | - |
| dc.subject | Cyprus | en |
| dc.subject | Female | en |
| dc.subject | Fragile X Syndrome/*genetics | en |
| dc.subject | Genetic Markers | en |
| dc.subject | Greece | en |
| dc.subject | *Haplotypes | en |
| dc.subject | Humans | en |
| dc.subject | Linkage Disequilibrium | en |
| dc.subject | Male | en |
| dc.subject | Risk | en |
| dc.subject | *Trinucleotide Repeats | en |
| dc.title | Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus | en |
| heal.type | journalArticle | - |
| heal.type.en | Journal article | en |
| heal.type.el | Άρθρο Περιοδικού | el |
| heal.identifier.primary | 10.1002/(SICI)1096-8628(19960712)64:1<234::AID-AJMG42>3.0.CO;2-L | - |
| heal.identifier.secondary | http://www.ncbi.nlm.nih.gov/pubmed/8826482 | - |
| heal.identifier.secondary | http://onlinelibrary.wiley.com/store/10.1002/(SICI)1096-8628(19960712)64:1<234::AID-AJMG42>3.0.CO;2-L/asset/42_ftp.pdf?v=1&t=h2d2abg8&s=36f448e59ae5674905a34794e34fa3471712de9e | - |
| heal.language | en | - |
| heal.access | campus | - |
| heal.recordProvider | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής | el |
| heal.publicationDate | 1996 | - |
| heal.abstract | The expansion of the trinucleotide repeat (CGG)n in successive generations through maternal meiosis is the cause of fragile X syndrome. Analysis of CA repeat polymorphisms flanking the FMR-1 gene provides evidence of a limited number of "founder" chromosomes and predisposing high-risk haplotypes related to the mutation. To investigate the origin of mutations in the fragile X syndrome in the Hellenic populations of Greece and Cyprus, we studied the alleles and haplotypes at DXS548 and FRAXAC2 loci of 16 independent fragile X and 70 normal control chromosomes. In addition, we studied 191 unrelated normal X chromosomes for the distribution and frequencies of CGG alleles. At DXS548, 6 alleles were found, 2 (194 and 196) of which were represented on fragile X chromosomes. At FRAXAC2, 6 alleles were found, 4 of which were present on fragile X chromosomes. Sixteen haplotypes were identified, but only 5 were present on fragile X chromosomes. The highest number of CGG repeats (> or = 33) were associated with haplotypes 194-147, 194-151, 194-153, and 204-155. The data provide evidence for founder chromosomes and high-risk haplotypes in the Hellenic population. | en |
| heal.journalName | Am J Med Genet | en |
| heal.journalType | peer-reviewed | - |
| heal.fullTextAvailability | TRUE | - |
| Appears in Collections: | Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ | |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| Syrrou-1996-Evidence for high-ri.pdf | 428.75 kB | Adobe PDF | View/Open Request a copy |
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