Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus

Απλή σελίδα τεκμηρίου
dc.contributor.authorSyrrou, M.en
dc.contributor.authorPatsalis, P. C.en
dc.contributor.authorGeorgiou, I.en
dc.contributor.authorHadjimarcou, M. I.en
dc.contributor.authorConstantinou-Deltas, C. D.en
dc.contributor.authorPagoulatos, G.en
dc.date.accessioned2015-11-24T19:17:24Z
dc.date.available2015-11-24T19:17:24Z
dc.identifier.issn0148-7299-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/21775
dc.rightsDefault Licence-
dc.subjectCyprusen
dc.subjectFemaleen
dc.subjectFragile X Syndrome/*geneticsen
dc.subjectGenetic Markersen
dc.subjectGreeceen
dc.subject*Haplotypesen
dc.subjectHumansen
dc.subjectLinkage Disequilibriumen
dc.subjectMaleen
dc.subjectRisken
dc.subject*Trinucleotide Repeatsen
dc.titleEvidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprusen
heal.abstractThe 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.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.primary10.1002/(SICI)1096-8628(19960712)64:1<234::AID-AJMG42>3.0.CO;2-L-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/8826482-
heal.identifier.secondaryhttp://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.journalNameAm J Med Geneten
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate1996-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

Αρχεία

Φάκελος/Πακέτο αδειών

Προβολή: 1 - 1 of 1
Μικρογραφία εικόνας
Ονομα:
license.txt
Μέγεθος:
1.74 KB
Μορφότυπο:
Item-specific license agreed upon to submission
Περιγραφή:
Κατεβάστε

Συλλογές

Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ