AmplideX™ FMR1
Fragile X is a trinucleotide repeat disease caused predominantly by the expansion
of CGG sequences in the 5’ untranslated region of the Fragile X Mental Retardation
1 (FMR1) gene [1]. The specific number of CGG repeats is associated with a constellation
of disorders that can affect patients both young and old [2]. For example, individuals
with full mutations (>200 CGG repeats) often present classic fragile X syndrome
(FXS), characterized by mental retardation, autistic-like behaviors, and emotional
and psychiatric challenges [3]. FXS is the most common known genetic cause of autism
and is recommended by recent ACMG practice guidelines as a first tier test for the
clinical genetic diagnostic evaluation of autism spectrum disorders [4]. According
to the Centers for Disease Control, the incidence of the full mutation is roughly
1 in 4000 males and 1 in 8000 females [5]. Two additional and more recently characterized
FMR1 disorders are fragile X-associated tremor/ataxia syndrome (FXTAS), which is
primarily associated with parkinsonism and dementia in male pre-mutation carriers
over the age of 50, and fragile X primary ovarian insufficiency (FXPOI), a leading
cause of ovarian dysfunction in women [6]. Nearly all cases of FXS, FXTAS, and FXPOI
are caused by CGG repeat expansion in FMR1. Thus, quantifying the number of CGG
repeats is an important goal.
AmplideX™ FMR1 PCR Research Reagents (RUO)* Now Available from Asuragen, Inc.
The AmplideX™ FMR1 PCR RUO* reagents are state-of-the-
art research tools for the detection of CGG repeats
in the fragile X mental retardation (FMR1) gene.
This product supports two different PCR formats,
Gene-specifi c FMR1 PCR and CGG Repeat Primed
(RP) PCR, that both enable the detection of
alleles across the full range of CGG repeats and
accurately differentiate female heterozygous and
homozygous samples.
Either PCR format can reduce the number of samples
required for Southern blot analysis by as much as
50-fold*.
Asuragen currently recommends the following instrumentation for use with these PCR
reagents:
- ABI 9700 Thermocycler, ABI Veriti, or MJ Research PTC-200 thermal cycler>
- ABI 3130xl or ABI 3730 Capillary Electrophoresis with POP-7 liquid polymer; 36 cm
capillary preferred>
Use of instrumentation outside of these recommendations cannot be supported at this
time.
For more information, please inquire to fragilexbd@asuragen.com.
*Research Use Only. Not intended for use in diagnostic procedures.
References
1. Verkerk, A.J., et al., Identification of a gene (FMR-1) containing a CGG repeat
coincident with a breakpoint cluster region exhibiting length variation in fragile
X syndrome. Cell, 1991. 65(5): p. 905-14.>
2. Hagerman, R.J. and P.J. Hagerman, Testing for fragile X gene mutations throughout
the life span. Jama, 2008. 300(20): p. 2419-21.>
3. Hagerman, R.J. and P.J. Hagerman, Fragile X Syndrome: Diagnosis, Treatment, and
Research. 3rd ed. 2002, Baltimore: The Johns Hopkins University Press. 3-109.>
4. Schaefer, G.B. and N.J. Mendelsohn, Clinical genetics evaluation in identifying
the etiology of autism spectrum disorders. Genet Med, 2008. 10(4): p. 301-5.>
5. Centers for Disease Control and Prevention. Fragile X Syndrome. http://www.cdc.gov/ncbddd/single_gene/fragilex.htm>
6. Hagerman, R.J. and P.J. Hagerman, The fragile X premutation: into the phenotypic
fold. Curr Opin Genet Dev, 2002. 12(3): p. 278-83.>