scholarly journals Comparison Between the Polymerase Chain Reaction-Based Screening and the Southern Blot Methods for Identification of Fragile X Syndrome

2012 ◽  
Vol 16 (11) ◽  
pp. 1303-1308 ◽  
Author(s):  
Karen M. Carvalho Curtis-Cioffi ◽  
Debora Aparecida Rodrigueiro ◽  
Valter Curi Rodrigues ◽  
Regina M. Barretto Cicarelli ◽  
Raquel Mantuaneli Scarel-Caminaga
Keyword(s):  
Polymerase Chain Reaction ◽  
Fragile X Syndrome ◽  
Southern Blot ◽  
Fragile X ◽  
Chain Reaction ◽  
Polymerase Chain

A Novel Polymorphism in the FMR1 Gene: Implications for Clinical Testing of Fragile X Syndrome

2008 ◽  
Vol 132 (1) ◽  
pp. 95-98
Author(s):  
Bharat Thyagarajan ◽  
Matthew Bower ◽  
Michael Berger ◽  
Sidney Jones ◽  
Michelle Dolan ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Mental Retardation ◽  
Fragile X Syndrome ◽  
Southern Blot ◽  
Trinucleotide Repeat ◽  
Fragile X ◽  
Fmr1 Gene ◽  
Chain Reaction ◽  
Cgg Repeat ◽  
Polymerase Chain

Abstract Fragile X syndrome is the most common cause of inherited mental retardation among males. In most cases, the molecular basis of fragile X syndrome is the expansion and subsequent methylation of a CGG trinucleotide repeat in the 5′ untranslated region of the fragile X mental retardation 1 (FMR1) gene. Laboratory diagnosis usually relies on a combination of Southern blot and polymerase chain reaction analyses. In this case report we describe an unusual Southern blot result in a patient who presented with developmental delay and had a normal CGG repeat number by polymerase chain reaction analysis. Further investigation revealed a novel G3310C transversion in the FMR1 gene resulting in a new recognition site for the BssHII restriction enzyme. This novel restriction site could potentially mimic a partial deletion of the FMR1 gene on Southern blot analysis and thus represents a possible pitfall in the diagnosis of fragile X syndrome.

scholarly journals High-resolution methylation polymerase chain reaction for fragile X analysis: Evidence for novel FMR1 methylation patterns undetected in Southern blot analyses

2011 ◽  
Vol 13 (6) ◽  
pp. 528-538 ◽  
Author(s):  
Liangjing Chen ◽  
Andrew G Hadd ◽  
Sachin Sah ◽  
Jeffrey F Houghton ◽  
Stela Filipovic-Sadic ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
High Resolution ◽  
Southern Blot ◽  
Fragile X ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Methylation Patterns

Improved sizing of fragile X CCG repeats by nested polymerase chain reaction

1994 ◽  
Vol 51 (4) ◽  
pp. 527-534 ◽  
Author(s):  
Gene Levinson ◽  
Anne Maddalena ◽  
Frances T. Palmer ◽  
Gary L. Harton ◽  
David P. Bick ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Fragile X ◽  
Chain Reaction ◽  
Nested Polymerase Chain Reaction ◽  
Polymerase Chain

Retina-derived fetuin (RDF): Analysis by immunocytochemistry, reverse transcriptase-polymerase chain reaction and Southern blot

1999 ◽  
Vol 19 (6) ◽  
pp. 465-471 ◽  
Author(s):  
Harold J. Sheedlo ◽  
Raghu Krishnamoorthy ◽  
Tammy Nelson ◽  
Neeraj Agarwal ◽  
Jingjing Liu ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Reverse Transcriptase ◽  
Southern Blot ◽  
Chain Reaction ◽  
Polymerase Chain
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