Development of TaqMan allelic discrimination based genotyping of large DNA deletions

Anastasia Fedick, Jing Su, Nathan R. Treff

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


The high prevalence of genetic diseases resulting from gross deletions has highlighted a need for a quick, simple, and reliable method of genotyping these mutations. Here, we developed a novel strategy for applying TaqMan allelic discrimination to accurately genotype 3 different large deletions in a high-throughput manner. Allelic discrimination has previously been used to genotype frame shift and point mutations, and small insertions or deletions six base pairs in length, but not large deletions. The assays designed here recognize a 2502 base pair deletion in the Nebulin (NEB) gene that results in Nemaline Myopathy, a 308,769 base pair deletion in the Gap Junction Protein, beta 6 (GJB6) gene that causes Hearing Loss, and a 6433 base pair deletion in the Mucolipin 1 (MCOLN1) gene responsible for causing Mucolipidosis IV Disease. This methodology may also be successfully applied to high throughput genotyping of other large deletions.

Original languageEnglish
Pages (from-to)127-131
Number of pages5
Issue number3
StatePublished - Mar 2012
Externally publishedYes


  • Ashkenazi
  • Deletion mutation
  • Genotyping
  • TaqMan allelic discrimination


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