Distribution of AGG interruption patterns within nine world populations

Carolyn M. Yrigollen, Stefan Sweha, Blythe Durbin-Johnson, Lili Zhou, Elizabeth Berry-Kravis, Isabel Fernandez-Carvajal, Sultana M.H. Faradz, Khaled Amiri, Huda Shaheen, Roberta Polli, Luis Murillo-Bonilla, Gabriel de Jesus Silva Arevalo, Patricia Cogram, Alessandra Murgia, Flora Tassone

Research output: Contribution to journalArticle

11 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)153-161
Number of pages9
JournalIntractable and Rare Diseases Research
Volume3
Issue number4
DOIs
StatePublished - Jan 1 2014

Keywords

  • AGG interruptions
  • CGG repeat
  • Ethnicity
  • Expansion
  • FMR1 allele

ASJC Scopus subject areas

  • Medicine(all)

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    Yrigollen, C. M., Sweha, S., Durbin-Johnson, B., Zhou, L., Berry-Kravis, E., Fernandez-Carvajal, I., Faradz, S. M. H., Amiri, K., Shaheen, H., Polli, R., Murillo-Bonilla, L., Arevalo, G. D. J. S., Cogram, P., Murgia, A., & Tassone, F. (2014). Distribution of AGG interruption patterns within nine world populations. Intractable and Rare Diseases Research, 3(4), 153-161. https://doi.org/10.5582/irdr.2014.01028