Dystrophia myotonica type 1 (DM1) is a dominant autosomal disorder caused by the expansion of the trinucleotide CTG repeat in the non-coding region of the DMPK gene. This kit is designed to easily amplify the 152 pair region on the DMPK gene for screening individuals as carriers and confirming affected individuals by determining the number of repeats in natural and damaged DNA samples.
The number of CTG repeats is indicative of the disease severity. Individuals with 5 to 34 CTG repeats are considered normal, while those with 35 to 49 repeats are predicted to be susceptible to DM1, and individuals with more than 50 repeats are diagnosed as affected, with the severity of the disease varying based on the number of repeats. Individuals with 50 to 150 repeats exhibit mild symptoms. Therefore, determining the allele is crucial for physicians and genetic counselors to take appropriate actions and guide families accordingly.
The DM1 DTekt™ Kit v1 is designed for the precise determination of the number of CTG repeats in natural and damaged DNA samples. This kit enables users to screen carriers and confirm affected individuals by determining the number of repeats.
| No. of CTG Repeats | Phenotype |
| 5-34 | Normal |
| 35-49 | Mutable normal (permutation) |
| 150~-51 | Mild |
| 1000~-100~ | Classic |
| 10003 < | Congenital |
Reviews
Clear filtersThere are no reviews yet.