A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis.

ABSTRACT:

Background

To offer 4-year clinical prenatal diagnosis experience of Duchenne muscular dystrophy (DMD).

Methods

Denaturing high-performance liquid chromatography (DHPLC) and Sanger sequencing were used for molecular diagnosis of 237 DMD families.

Results

In the study, deletions, duplications, complex rearrangement and small mutations accounted for 47.3%, 8.4%, 1.7% and 42.6% of 237 families, respectively. Sixty-six different deletion patterns were identified in 112 families. Fourteen different duplication patterns were identified in 20 families and 4 complex rearrangements were identified. About 87.1% different small mutation patterns were identified, including 37.6% different nonsense mutation patterns, 24.8% different frameshift mutation patterns, 7.9% different mis

SUBMITTER: Xu Y 

PROVIDER: S-EPMC6816952 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature