Screening Tests for Fragile X Syndrome and FXTAS
ELISA Assay There is currently no quantitative, high-throughput assay for FMRP levels from peripheral white blood cells (FMRP is an intracellular protein that is not detectable in cell-free serum). The FMRP ELISA test is both quantitative and high-throughput, since samples can be run in a 96-well format for luminometric detection. PCR Assay There is currently no high-throughput method of screening for expanded alleles of the FMR1 gene. The PCR assay may be used as an inexpensive, rapid screening tool for newborns (i.e., because it is a PCR-based method, it can be run from blood spots), as well as for all females who are experiencing possible premature ovarian failure and older adults with neurodegeneration involving gait ataxia. The screening tool is based on a modification of the published procedure of Saluto et al., 2005, with the addition of a novel primer set design.
Screening for both fragile X syndrome and the adult neurodegenerative disorder Fragile X-associated tremor/ataxia syndrome (FXTAS) Commercial and academic clinical and diagnostic genetics laboratories Quantifying protein levels from peripheral white blood cells and from other cells and tissues of interest
Fragile X syndrome (FXS) is a single-gene disorder and is the most common inherited form of mental retardation (MR), accounting for one to three percent of all mental retardation and approximately thirty percent of all X-linked MR. The proximal cause of fragile X syndrome is lowered levels or absence of the FMR1 protein (designated FMRP). The degree of mental impairment correlates with FMRP levels in peripheral white blood cells; therefore, a quantitative test for protein level is critical for both diagnosis and for prognosis. University of California, Davis researchers have developed a novel and powerful ELISA assay for detection of FMRP protein. In addition, UC Davis researchers have developed a polymerase chain reaction-based (PCR assay) screening procedure that is capable of identifying premutation and full mutation alleles of the fragile X mental retardation 1 (FMR1) gene in both males and females.
Patent Number: US7855053B2
Application Number: US2007779873A
Inventor: Hagerman, Paul J. | Tassone, Flora
Priority Date: 19 Jul 2006
Priority Number: US7855053B2
Application Date: 18 Jul 2007
Publication Date: 21 Dec 2010
IPC Current: C12Q000168 | C07H002104 | C12P001934
US Class: 43500612 | 435006 | 4350912 | 53602433
Assignee Applicant: The Regents of the University of California
Title: Methods for detecting the presence of expanded CGG repeats in the FMR1 gene 5′ untranslated region | Methods for detecting the presence of expanded CGG repeats in the FMR1 gene 5′ untranslated region
Usefulness: Methods for detecting the presence of expanded CGG repeats in the FMR1 gene 5′ untranslated region | Methods for detecting the presence of expanded CGG repeats in the FMR1 gene 5′ untranslated region
Summary: The methods are useful for perforating PCR to determine the presence or absence of an allele with expanded CGG repeats of the 5' UTR of FMR1 gene in a biological sample and for detecting the presence of FMRP in a biological sample.
Novelty: Perforating PCR to detect expanded CGG repeats in fragile X mental retardation 1 gene comprises amplifying the CGG repeat region of the 5' untranslated region of the gene with primers
生物醫學
DNA /基因工程
7855053
Related Materials Tech ID/UC Case 11442/2006-642-0 Related Cases 2006-642-0
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