This Standard Reference Material (SRM) is intended primarily for use in the value assignment of the number of Huntington's Disease (CAG) trinucleotide repeats contained in a human genomic material. The six component genomic DNA materials are from DNA extracted from cell lines derived from Huntington's Disease samples (Coriell Cell Repositories, Coriell Institute for Medical Research, Camden , NJ).
The number of (CAG) repeats was determined by counting the number of (CAG) repeat units after Sanger sequencing. These values were confirmed by fragment analysis (genotyping).
The components include the following alleles: 15, 17, 29, 35, 36, 39, 40, 45, 50, & 75.
These selected alleles represent the "normal" to "Juvenile onset" stages of the disease.
For more information, please see the Certificate for SRM 2393 or NIST Tech Beat article on SRM 2393
Example of one normal allele and one intermediate allele
Forward and Reverse Sequencing of 29 allele