title: Distribution of AGG interruption patterns within nine world populations.
abstract: The CGG trinucleotide repeat within the FMR1 gene is associated with multiple clinical disorders, including fragile X-associated tremor/ataxia syndrome, fragile X-associated primary ovarian insufficiency, and fragile X syndrome. Differences in the distribution and prevalence of CGG repeat length and of AGG interruption patterns have been reported among different populations and ethnicities. In this study we characterized the AGG interruption patterns within 3,065 normal CGG repeat alleles from nine world populations including Australia, Chile, United Arab Emirates, Guatemala, Indonesia, Italy, Mexico, Spain, and United States. Additionally, we compared these populations with those previously reported, and summarized the similarities and differences. We observed significant differences in AGG interruption patterns. Frequencies of longer alleles, longer uninterrupted CGG repeat segments and alleles with greater than 2 AGG interruptions varied between cohorts. The prevalence of fragile X syndrome and FMR1 associated disorders in various populations is thought to be affected by the total length of the CGG repeat and may also be influenced by the AGG distribution pattern. Thus, the results of this study may be important in considering the risk of fragile X-related conditions in various populations.
authors.affiliation: Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Davis, CA, USA;
authors.forename: Carolyn M
authors.initials: CM
authors.lastname: Yrigollen
authors.affiliation: Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Davis, CA, USA;
authors.forename: Stefan
authors.initials: S
authors.lastname: Sweha
authors.affiliation: Department of Public Health Sciences, University of California Davis, School of Medicine, Davis, CA, USA;
authors.forename: Blythe
authors.initials: B
authors.lastname: Durbin-Johnson
authors.affiliation: Department of Pediatrics, Neurological Sciences, Biochemistry, Rush University Medical Center, Chicago, IL, USA;
authors.forename: Lili
authors.initials: L
authors.lastname: Zhou
authors.affiliation: Department of Pediatrics, Neurological Sciences, Biochemistry, Rush University Medical Center, Chicago, IL, USA;
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Berry-Kravis
authors.affiliation: Laboratorio de Enfermedades genéticas y cribado neonatal, Departamento de Genetica Molecular de la Enfermedad, Instituto de Biologìa y Genética Molecular Universidad de Valladolid-CSIC, Valladolid, Spain;
authors.forename: Isabel
authors.initials: I
authors.lastname: Fernandez-Carvajal
authors.affiliation: Center for Biomedical Research, Diponegoro University, Semarang, Central Java, Indonesia;
authors.forename: Sultana Mh
authors.initials: SM
authors.lastname: Faradz
authors.affiliation: Department of Biology, College of Science, United Arab University, United Arab Emirates;
authors.forename: Khaled
authors.initials: K
authors.lastname: Amiri
authors.affiliation: Department of Biology, College of Science, United Arab University, United Arab Emirates;
authors.forename: Huda
authors.initials: H
authors.lastname: Shaheen
authors.affiliation: Laboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padova, Italy;
authors.forename: Roberta
authors.initials: R
authors.lastname: Polli
authors.affiliation: Autonomous University of Guadalajara, Faculty of Medicine, Guadalajara, Mexico;
authors.forename: Luis
authors.initials: L
authors.lastname: Murillo-Bonilla
authors.affiliation: Genetic and Neurometabolic Clinic, Obras Sociales Santo Hermano Pedro, Antigua Guatemala. Center by Biomedical Research, Medicine school San Carlos University, Guatemala Central America;
authors.forename: Gabriel de Jesus
authors.initials: Gde J
authors.lastname: Silva Arevalo
authors.affiliation: Biomedicine Division, Fraunhofer Chile Research Foundation, Santiago, Chile;
authors.forename: Patricia
authors.initials: P
authors.lastname: Cogram
authors.affiliation: Laboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padova, Italy;
authors.forename: Alessandra
authors.initials: A
authors.lastname: Murgia
authors.affiliation: Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Davis, CA, USA; ; M.I.N.D. Institute, University of California Davis Medical Center, Davis, CA, USA.
authors.forename: Flora
authors.initials: F
authors.lastname: Tassone
keywords: AGG interruptions; CGG repeat; FMR1 allele; ethnicity; expansion