The Delta>15 Kb deletion French Canadian founder mutation in familial hypercholesterolemia: rapid polymerase chain reaction-based diagnostic assay and prevalence in Quebec.

@article{Simard2004TheDK,
  title={The Delta>15 Kb deletion French Canadian founder mutation in familial hypercholesterolemia: rapid polymerase chain reaction-based diagnostic assay and prevalence in Quebec.},
  author={Louise R. Simard and Janique Viel and Marie Lambert and Gilles Paradis and {\'E}mile L{\'e}vy and Edgard E. Delvin and Grant A. Mitchell},
  journal={Clinical genetics},
  year={2004},
  volume={65 3},
  pages={202-8}
}
Approximately one in 500 individuals in Western population has autosomal dominant familial hypercholesterolemia due to mutations in the low-density lipoprotein receptor (LDLR) gene. Screening for these mutations is hampered by their large number, except in founder populations. We identified the breakpoint of the >15 kb deletion involving the LDLR gene promoter and exon 1, responsible for more than 60% of French Canadian hypercholesterolemia cases, as well as the breakpoint of the 5 kb deletion… CONTINUE READING