Year: 2014
Type: review
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.
Source: Frontiers in Genetics
Institution: Asuragen (United States)
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,801
OpenAlex ID: W2064740540