Why the study?
Molecular diagnosis of facioscapulohumeral muscular dystrophy typically relies on pulsed-field gel electrophoresis with Southern blotting, creating a need for novel genomic and computational methods to characterise D4Z4 repeat numbers.
Population
25 human subjects (13 patients, 3 individual control subjects, 9 control subjects from 3 families)
Comparison
Single-molecule optical mapping platform vs Southern blotting
Design
Method development and validation study
Authors
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May refine D4Z4 repeat quantification in FSHD; leaves open clinical adoption and genotype-phenotype utility.
Single-molecule optical mapping provides a viable, refined approach for analyzing genotype-phenotype relationships in FSHD, particularly for quantifying D4Z4 repeats and postzygotic mosaicism.
Dai et al. (2019) studied this question.