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AmplideX® FMR1 PCR

AmplideX® FMR1 PCRは脆弱X精神遅延I型(fragile X mental retardation-1; FMR1)の5’-UTR中におけるシトシン-グアニン-シトシン(cytosine-guanine-cytosine; CGG)繰り返し配列領域を増幅検出するためのツールです。
 

プレゼンテーション資料

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2-1:リスト

1
Hammond LS, Macias MM, Tarleton JC, Pai GS: Fragile X syndrome and deletions in FMR1: new case and review of literature. Am J Med Genet 2011, 72:430–434
 
2
Gronskov K, Brondum-Nielsen K, Dedic A, Hjalgrim H: A nonsense mutation in FMR1 causing fragile X syndrome. Eur J Hum Genet 2011, 19:489–491
 
3
Coffee B, Ikeda M, Budimirovic DB, Hjelm LN, Kaufmann WE, Warren ST: Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis. Am J Med Genet A 2008, 146A:1358–1367
 
4
Sherman S, Pletcher BA, Driscoll DA: Fragile X syndrome: diagnostic and carrier testing. Genet Med 2005, 7:584–587
 
5
Spector EB, Kronquist K, Fragile X Molecular Working Group 2005 for the Quality Assurance Committee of the American College of Medical Genetics: Technical Standards and Guidelines for Fragile X Testing: A Revision to the Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. 2006 Edition. Available at http://www.acmg.net/ Pages/ACMG_Activities/stds-2002/fx.htm. Last accessed December 1, 2011
 
6
Nolin SL, Brown WT, Glicksman A, Houck GE, Gargano AD, Sullivan A, Biancalana V, Bröndum-Nielsen K, Hjalgrim H, Holinski-Feder E, Kooy F, Longshore J, Macpherson J, Mandel J-L, Matthijs G, Rousseau F, Steinbach P, Väisänen M-L, von Koskull H, Sherman SL: Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Med Genet 2003, 72:454–464
 
7
Fernandez-Carvajal I, Lopez Posadas B, Pan R, Raske C, Hagerman PJ, Tassone F: Expansion of an FMR1 grey-zone allele to a full mutation in two generations. J Mol Diagn 2009, 11:306–310
 
8
Farzin F, Perry H, Hess D, Loesch D, Cohen J, Bacalman S, Gane L, Tassone F, Hagerman P, Hagerman R: Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. Dev and Behav Peds 2006, 27(2 Suppl):S137–S144
 
9
Rousseau F, Labelle Y, Bussieres J, Lindsay C: The fragile X mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge. Clin Biochem Rev 2011, 32:135–162
 
10
Nolin SL, Glicksman A, Houck GE Jr., Brown WT, Dobkin CS: Mosaicism in fragile X affected males. Am J Med Genet 1994, 15:509–512
 

2-2:文献ダウンロード

1
An Information-Rich CGG Repeat Primed PCR That Detects the Full Range of Fragile X Expanded Alleles and Minimizes the Need for Southern Blot Analysis
ダウンロード (約3,174KB)
 
2
Prenatal Population Screening for Fragile X Carrier and the Prevalence of Premutation Carriers in Korea
ダウンロード (約597KB)
 
3
Performance Evaluation of Two Methods Using Commercially Available Reagents for PCR-Based Detection of FMR1 Mutation
ダウンロード (約684KB)
 
4
A Novel FMR1 PCR Method for the Routine Detection of Low Abundance Expanded Alleles and Full Mutations in Fragile X Syndrome
ダウンロード (約1,721KB)
 
5
Reliable and Sensitive Detection of Fragile X (Expanded) Alleles in Clinical Prenatal DNA Samples with a Fast Turnaround Time
ダウンロード (約1,251KB)
 

 商品画像 (外観)

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