Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.

@article{Gibbs1990MultiplexDD,
  title={Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.},
  author={Richard A. Gibbs and Phuong Nga Nguyen and Alan Edwards and Andrew B. Civitello and C. Thomas Caskey},
  journal={Genomics},
  year={1990},
  volume={7 2},
  pages={235-44}
}
The Lesch-Nyhan (LN) syndrome is a genetically lethal human neurological disease that results from mutations that inactivate the hypoxanthine phosphoribosyltransferase (HPRT) gene. The elucidation of the complete DNA sequence of the human HPRT gene locus has enabled the construction of multiple oligonucleotide primer sets for the simultaneous in vitro amplification of all nine HPRT exons. The multiplex polymerase chain reaction provides a facile assay for the detection of HPRT exon deletions… CONTINUE READING