Ontology highlight
ABSTRACT:
SUBMITTER: Nolin SL
PROVIDER: S-EPMC4396070 | biostudies-literature | 2013 Apr
REPOSITORIES: biostudies-literature
Nolin Sarah L SL Sah Sachin S Glicksman Anne A Sherman Stephanie L SL Allen Emily E Berry-Kravis Elizabeth E Tassone Flora F Yrigollen Carolyn C Cronister Amy A Jodah Marcia M Ersalesi Nicole N Dobkin Carl C Brown W Ted WT Shroff Raghav R Latham Gary J GJ Hadd Andrew G AG
American journal of medical genetics. Part A 20130226 4
We investigated the effect of AGG interruptions on fragile X repeat instability upon transmission of fragile X intermediate and small premutation alleles with 45-69 CGG repeats. The FMR1 repeat structure was determined for 375 mothers, 48 fathers, and 538 offspring (457 maternal and 81 paternal transmissions) using a novel PCR assay to determine repeat length and AGG interruptions. The number of AGG interruptions and the length of uninterrupted CGG repeats at the 3' end were correlated with repe ...[more]