PCR approach for detection of Fragile X syndrome and Huntington disease based on modified DNA: limits and utility.

Abstract

A group of mutations characterized by trinucleotide repeat expansion causes human diseases such as the Fragile X syndrome, Huntington disease (HD), and myotonic dystrophy. Methods based on PCR amplification of the CGG and CAG repeats region could facilitate the development of a rapid screening assay; unfortunately, amplification across CGG and CAG repeats can be inefficient and unreliable due to the G + C base composition. The utility of the PCR on modified DNA for amplification of the CGG and CAG repeats at the Fragile X syndrome and HD has been reported. In the present study, we analyzed the utility of PCR on modified DNA as a rapid screening method for diagnosis of patients with Fragile X syndrome and HD. A comparative analysis realized with 38 Fragile X and 29 HD patients showed that the molecular diagnosis by simple PCR on modified DNA has a sensitivity and specificity of 100% in Fragile X patients and 94.1% and 91.6% in HD patients. The results achieved from the statistical analysis allowed us to conclude that the amplification by simple PCR on modified DNA is a reliable and useful method for the molecular diagnosis of the Fragile X syndrome, but not for the HD.

• Authors: Mónica Alejandra Rosales-Reynoso, Elisa Alonso Vilatela, Rosario Macias Ojeda, Aura Arce-Rivas, Lucila Sandoval, Rogelio Troyo-Sanromán, Patricio Barros-Núñez
• Journal: Genetic testing (Genet Test) Vol. 11 Issue 2 Pg. 153-9 ( 2007) ISSN: 1090-6576 [Print] United States
• PMID: 17627386 (Publication Type: Journal Article)

Chemical References

• DNA

Topics

• DNA (genetics)
• Fragile X Syndrome (diagnosis, genetics)
• Humans
• Huntington Disease (genetics)
• Polymerase Chain Reaction (methods)
• Reference Values
• Sensitivity and Specificity
• Trinucleotide Repeats