Research Centre for Medical Genetics
1 Moskvorechye St,
Moscow 115522, Russian Federation
Mo-Fr: 9:00 - 17:00

A new method of Facioscapulohumeral muscular dystrophy was developed

Facioscapulohumeral muscular dystrophy (FSHD) is the third most common among all hereditary myodystrophies. In approximately 95% of cases, a partial deletion of D4Z4 macrosatellite repeats tandem on the fourth chromosome allele causes FSHD. The existing diagnostic approaches using Southern blotting and molecular combing methods are extremely laborious and expensive, and require the use of rare expensive equipment. The researchers from the RCMG Functional Genomics Laboratory have developed a new method that circumvents these limitations. The new method is based on the use of quantitative PCR to detect D4Z4 tandem repeats of chromosome 4 after pulse electrophoretic separation. The new method showed high concordance with the results of reference methods.

The study showed that patients with FSHD had a prevalence (64.9%) of the permissive alleles in the range of 3-6 D4Z4 units. While among the relatives of the patients, the permissive alleles were mostly (84.6%) present in the range of 6-9 D4Z4 units. The obtained comparison between the methods and the FSHD diagnostics in the Russian population showed that the new widely available method is an alternative to the existing molecular genetic methods of FSHD diagnosis. This work is the first molecular genetic characterization of patients with Landusi-Dgerin myodystrophy in the Russian population that laid the foundation for further research of FSHD in Russia

Zernov, N.V.; Guskova, A.A.; Skoblov, M.Y. FSHD1 Diagnosis in a Russian Population Using a qPCR-Based Approach. Diagnostics 2021, 11, 982.