dc.contributor.author | Syrrou, Maria | en |
dc.contributor.author | Patsalis, Philippos C. | en |
dc.contributor.author | Georgiou, Ioannis A. | en |
dc.contributor.author | Hadjimarcou, Michael I. | en |
dc.contributor.author | Constantinou-Deltas, Constantinos D. | en |
dc.contributor.author | Pagoulatos, G. | en |
dc.creator | Syrrou, Maria | en |
dc.creator | Patsalis, Philippos C. | en |
dc.creator | Georgiou, Ioannis A. | en |
dc.creator | Hadjimarcou, Michael I. | en |
dc.creator | Constantinou-Deltas, Constantinos D. | en |
dc.creator | Pagoulatos, G. | en |
dc.date.accessioned | 2019-11-04T12:52:45Z | |
dc.date.available | 2019-11-04T12:52:45Z | |
dc.date.issued | 1996 | |
dc.identifier.uri | http://gnosis.library.ucy.ac.cy/handle/7/53412 | |
dc.description.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 (≤ 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 |
dc.source | American Journal of Medical Genetics | en |
dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0030055547&doi=10.1002%2f%28SICI%291096-8628%2819960712%2964%3a1%3c234%3a%3aAID-AJMG42%3e3.0.CO%3b2-L&partnerID=40&md5=f71fc6a688d4baa843bbeab03f290dc5 | |
dc.subject | article | en |
dc.subject | Female | en |
dc.subject | human | en |
dc.subject | Humans | en |
dc.subject | controlled study | en |
dc.subject | priority journal | en |
dc.subject | clinical article | en |
dc.subject | human tissue | en |
dc.subject | male | en |
dc.subject | high risk population | en |
dc.subject | Risk | en |
dc.subject | human cell | en |
dc.subject | greece | en |
dc.subject | haplotype | en |
dc.subject | Haplotypes | en |
dc.subject | cyprus | en |
dc.subject | Genetic Markers | en |
dc.subject | dna sequence | en |
dc.subject | Linkage Disequilibrium | en |
dc.subject | allelism | en |
dc.subject | CGG repeats | en |
dc.subject | fragile X syndrome | en |
dc.subject | hellenic population | en |
dc.subject | microsatellite dna | en |
dc.subject | mutation rate | 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 |
dc.type | info:eu-repo/semantics/article | |
dc.identifier.doi | 10.1002/(SICI)1096-8628(19960712)64:1<234 | |
dc.description.volume | 64 | |
dc.description.startingpage | 234 | |
dc.description.endingpage | 238 | |
dc.author.faculty | Σχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences | |
dc.author.department | Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences | |
dc.type.uhtype | Article | en |
dc.description.notes | <p>Cited By :18</p> | en |
dc.source.abbreviation | Am.J.Med.Genet. | en |
dc.contributor.orcid | Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] | |
dc.gnosis.orcid | 0000-0001-5549-9169 | |