title: The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective.
abstract: In 1994, it was suggested that AGG interruptions affect the stability of the fragile X triplet repeat. Until recently, however, this hypothesis was not explored on a large scale due primarily to the technical difficulty of determining AGG interruption patterns of the two alleles in females. The recent development of a PCR technology that overcomes this difficulty and accurately identifies the number and position of AGGs has led to several studies that examine their influence on repeat stability. Here, we present a historical perspective of relevant studies published during the last 20 years on AGG interruptions and examine those recent publications that have refined risk estimates for repeat instability and full-mutation expansions.
authors.affiliation: Asuragen Inc., Austin, TX, USA.
authors.forename: Gary J
authors.initials: GJ
authors.lastname: Latham
authors.affiliation: Asuragen Inc., Austin, TX, USA.
authors.forename: Justine
authors.initials: J
authors.lastname: Coppinger
authors.affiliation: Asuragen Inc., Austin, TX, USA.
authors.forename: Andrew G
authors.initials: AG
authors.lastname: Hadd
authors.affiliation: Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities Staten Island, NY, USA.
authors.forename: Sarah L
authors.initials: SL
authors.lastname: Nolin
keywords: FMR1; autism spectrum disorders; diagnostic tests; fragile X syndrome; repeat expansion diseases; risk assessment