Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus
Φόρτωση...
Ημερομηνία
Συγγραφείς
Syrrou, M.
Patsalis, P. C.
Georgiou, I.
Hadjimarcou, M. I.
Constantinou-Deltas, C. D.
Pagoulatos, G.
Τίτλος Εφημερίδας
Περιοδικό ISSN
Τίτλος τόμου
Εκδότης
Περίληψη
Τύπος
Είδος δημοσίευσης σε συνέδριο
Είδος περιοδικού
peer-reviewed
Είδος εκπαιδευτικού υλικού
Όνομα συνεδρίου
Όνομα περιοδικού
Am J Med Genet
Όνομα βιβλίου
Σειρά βιβλίου
Έκδοση βιβλίου
Συμπληρωματικός/δευτερεύων τίτλος
Περιγραφή
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.
Περιγραφή
Λέξεις-κλειδιά
Cyprus, Female, Fragile X Syndrome/*genetics, Genetic Markers, Greece, *Haplotypes, Humans, Linkage Disequilibrium, Male, Risk, *Trinucleotide Repeats
Θεματική κατηγορία
Παραπομπή
Σύνδεσμος
http://www.ncbi.nlm.nih.gov/pubmed/8826482
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
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
Γλώσσα
en
Εκδίδον τμήμα/τομέας
Όνομα επιβλέποντος
Εξεταστική επιτροπή
Γενική Περιγραφή / Σχόλια
Ίδρυμα και Σχολή/Τμήμα του υποβάλλοντος
Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής