Patent ID: 9382586
Filing Date: 2016-07-05
CPC Classification: C12Q,G16B

Claim Text:
1. A method for determining the presence or absence of an expansion of the CGG repeat tract in the 5′-untranslated region (5′-UTR) of fragile X related mental retardation 1 (FMRI) gene in an individual, said method comprising: a) amplifying all or a portion of said 5′-UTR CGG repeat tract in the presence of a deoxy GTP analog, using as template genomic DNA comprising the FMR1 gene obtained from a biological sample from said individual, said amplifying being achieved with at least a primer pair, said primer pair comprising an upstream primer and a downstream primer, wherein: said amplifying generates amplicons that contain a portion of the CGG repeat tract; b) separating said amplicons according to size by capillary electrophoresis; and c) detecting the presence or absence of an expansion of the CGG repeat tract, wherein the size of said amplicons indicates the presence or absence of expansion of said CGG repeat tract in said 5′-UTR of FMRI gene.