Diagnosis of Fragile X Syndrome by Southern Blot Hybridization Using a Chemiluminescent Probe: A Laboratory Protocol

Author:

Gold Bert,Radu Daniela,Balanko Alla,Chiang Chih-Sheng

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Reference42 articles.

1. Verkerk AJ, Pieretti M, Sutcliffe JS, 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;65:905–914

2. Fu Y, Kuhl DP, Pizutti A, et al.: Variation of the CGG repeat at the Fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell 1991;67:1047–1058

3. Brown WT, Houck GE Jr, Jeziorowska A, et al.: Rapid Fragile X carrier screening and prenatal diagnosis by a non-radioactive PCR test. JAMA 1993; 270:1569–1575

4. Snow K, Doud LK, Hagerman R, Pergolizzi RG, Erster SH, Thibodeau SN: Analysis of a CGG sequence at the FMR-1 locus in Fragile X families and in the general population. Am J Hum Genet 1993; 53:1217–1228

5. Brown WT: The molecular biology of the Fragile X mutation. In Hagerman RJ, Cronister A: Fragile X syndrome: Diagnosis, treatment and research. Johns Hopkins University Press, Baltimore, MD, 1996, pp. 88–113

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