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.

试剂盒简介：

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*.

推荐使用仪器：

• 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>