Thursday, June 1, 2017

Single-step blood direct PCR: A robust and rapid method to diagnose triplet repeat disorders

Inder Singh, Vishnu Swarup, Sunil Shakya, Vinay Goyal, Mohammed Faruq, Achal Kumar Srivastava, Single-step blood direct PCR: A robust and rapid method to diagnose triplet repeat disorders, Journal of the Neurological Sciences, Available online 22 May 2017, ISSN 0022-510X, doi:10.1016/j.jns.2017.05.042.

The nearly-accurate sizing of the normal and expanded allele was achieved in a shorter time (4–5 h), without DNA extraction and any risk of cross contamination, which suggests the BD-PCR to be a reliable, inexpensive, and rapid method to confirm TRDs. This technique can be introduced in routine diagnostic procedures of other tandem repeat disorders.