Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles.

ABSTRACT: Myotonic dystrophy type 1 is a multisystemic autosomal dominant disorder caused by the expansion of (CTG) _n triplets in the 3'UTR of the DMPK gene, on chromosome 19q13.3. In the last years, few DM1 patients with different patterns of CCG/CTC interruptions at the 3' end of the DMPK expanded tract have been described. However, the role of these interruptions in DM1 pathogenesis is still unclear. To study the frequency, stability and the structure of DMPK variant expanded alleles in the Italian population, we have re-evaluated 254 Italian DM1 patients using triplet-primed PCR (TP-PCR), at both the 3' and 5' ends of the CTG expansion. In addition, three DM1 families were also investigated in order to analyze the intergenerational stability of the interrupted DMPK alleles. Fourteen D

SUBMITTER: Botta A 

PROVIDER: S-EPMC5255948 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature