title: Fragile X founder effects in Argentina.
abstract: To investigate the origin of fragile X mutations in the Argentine population, we studied the alleles and haplotypes at DXS548 and FRAXAC1 loci of 42 unrelated fragile X chromosomes and 168 normal ones. Four haplotypes presented in linkage disequilibrium and accounted for 76.2% of fragile X chromosomes, representing the high frequency of haplotype DXS548-FRAXAC1 7-1 (26.2%) characteristic of our population. FRAXAC1 allele 1 was observed on 47.6% of fragile X chromosomes. Thus, we provide evidence for fragile X founder effects in the Argentine population, similar to those observed in Caucasians and in Asians.
authors.affiliation: Laboratorio de Biología Molecular, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, Argentina.
authors.forename: G
authors.initials: G
authors.lastname: Bonaventure
authors.forename: M
authors.initials: M
authors.lastname: Torrado
authors.forename: C
authors.initials: C
authors.lastname: Barreiro
authors.forename: L
authors.initials: L
authors.lastname: Chertkoff
mesh_terms: D001118:Argentina / Q000453:epidemiology; D001938:Brazil / Q000208:ethnology; D016009:Chi-Square Distribution; D018703:Founder Effect; D005600:Fragile X Syndrome / Q000235:genetics*; D005602:France / Q000208:ethnology; D005819:Genetic Markers; D005820:Genetic Testing / Q000379:methods; D005858:Germany / Q000208:ethnology; D006239:Haplotypes; D006801:Humans; D007558:Italy / Q000208:ethnology; D007585:Jews / Q000235:genetics*; D011044:Poland / Q000208:ethnology; D012426:Russia / Q000208:ethnology; D013030:Spain / Q000208:ethnology; D014455:Ukraine / Q000208:ethnology; D006113:United Kingdom / Q000208:ethnology; D015022:Yugoslavia / Q000208:ethnology
chemical_list: D005819:Genetic Markers