title: The CGG repeat and the FMR1 gene.
abstract: This chapter intends to provide the different DNA and protein methods for analysis of the repeat in the FMR1 gene, both in humans and in mouse models. The methods to determine the CGG repeat size include Southern blot analysis, polymerase chain reaction (PCR), and methylation status analysis, including bisulfite treatment. The methods to determine expression include analysis of RNA levels and protein levels.
authors.affiliation: Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
authors.forename: Renate K
authors.initials: RK
authors.lastname: Hukema
authors.forename: Ben A
authors.initials: BA
authors.lastname: Oostra
mesh_terms: D000818:Animals; D015139:Blotting, Southern; D019175:DNA Methylation; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005786:Gene Expression Regulation; D006801:Humans; D008297:Male; D051379:Mice; D010957:Plasmids / Q000235:genetics; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D017422:Sequence Analysis, DNA; D013447:Sulfites / Q000494:pharmacology; D018911:Trinucleotide Repeats / Q000235:genetics*
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D012333:RNA, Messenger; D013447:Sulfites; C497683:FMR1 protein, human; C497684:Fmr1 protein, mouse; C042345:hydrogen sulfite