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FSHD1 Diagnosis in a Russian Population Using a qPCR-Based Approach

Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant myodystrophy. Approximately 95% of cases of FSHD are caused by partial deletion of the D4Z4 macrosatellite tandem repeats on chromosome 4q35. The existing FSHD1 diagnostic methods are laborious and not widely used. Here, we present a comp...

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Autores principales: Zernov, Nikolay Vladimirovich, Guskova, Anna Alekseevna, Skoblov, Mikhail Yurevich
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8226754/
https://www.ncbi.nlm.nih.gov/pubmed/34071558
http://dx.doi.org/10.3390/diagnostics11060982
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author Zernov, Nikolay Vladimirovich
Guskova, Anna Alekseevna
Skoblov, Mikhail Yurevich
author_facet Zernov, Nikolay Vladimirovich
Guskova, Anna Alekseevna
Skoblov, Mikhail Yurevich
author_sort Zernov, Nikolay Vladimirovich
collection PubMed
description Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant myodystrophy. Approximately 95% of cases of FSHD are caused by partial deletion of the D4Z4 macrosatellite tandem repeats on chromosome 4q35. The existing FSHD1 diagnostic methods are laborious and not widely used. Here, we present a comprehensive analysis of the currently used diagnostic methods (Southern blotting and molecular combing) against a new qPCR-based approach for FSHD1 diagnosis. We observed 93% concordance between the results obtained by the new qPCR-based approach, reference Southern blotting and molecular combing methods. Applying the qPCR-based approach in the studied population, we observed a prevalence (64.9%) of the permissive alleles in the range of 3–6 D4Z4 units for a group of patients, while in a group of carriers, the permissive alleles were mostly (84.6%) present in the range of 6–9 D4Z4 units. No prevalence of disease penetrance depending on gender was observed. The results confirmed the earlier established inverse correlation between permissive allele size and disease severity, disease penetrance. The results suggest the applicability of the qPCR-based approach for FSHD1 diagnosis and its robustness in a basic molecular genetics laboratory. To our knowledge, this is the first study of FSHD1 permissive allele distribution in a Russian population.
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spelling pubmed-82267542021-06-26 FSHD1 Diagnosis in a Russian Population Using a qPCR-Based Approach Zernov, Nikolay Vladimirovich Guskova, Anna Alekseevna Skoblov, Mikhail Yurevich Diagnostics (Basel) Article Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant myodystrophy. Approximately 95% of cases of FSHD are caused by partial deletion of the D4Z4 macrosatellite tandem repeats on chromosome 4q35. The existing FSHD1 diagnostic methods are laborious and not widely used. Here, we present a comprehensive analysis of the currently used diagnostic methods (Southern blotting and molecular combing) against a new qPCR-based approach for FSHD1 diagnosis. We observed 93% concordance between the results obtained by the new qPCR-based approach, reference Southern blotting and molecular combing methods. Applying the qPCR-based approach in the studied population, we observed a prevalence (64.9%) of the permissive alleles in the range of 3–6 D4Z4 units for a group of patients, while in a group of carriers, the permissive alleles were mostly (84.6%) present in the range of 6–9 D4Z4 units. No prevalence of disease penetrance depending on gender was observed. The results confirmed the earlier established inverse correlation between permissive allele size and disease severity, disease penetrance. The results suggest the applicability of the qPCR-based approach for FSHD1 diagnosis and its robustness in a basic molecular genetics laboratory. To our knowledge, this is the first study of FSHD1 permissive allele distribution in a Russian population. MDPI 2021-05-28 /pmc/articles/PMC8226754/ /pubmed/34071558 http://dx.doi.org/10.3390/diagnostics11060982 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Zernov, Nikolay Vladimirovich
Guskova, Anna Alekseevna
Skoblov, Mikhail Yurevich
FSHD1 Diagnosis in a Russian Population Using a qPCR-Based Approach
title FSHD1 Diagnosis in a Russian Population Using a qPCR-Based Approach
title_full FSHD1 Diagnosis in a Russian Population Using a qPCR-Based Approach
title_fullStr FSHD1 Diagnosis in a Russian Population Using a qPCR-Based Approach
title_full_unstemmed FSHD1 Diagnosis in a Russian Population Using a qPCR-Based Approach
title_short FSHD1 Diagnosis in a Russian Population Using a qPCR-Based Approach
title_sort fshd1 diagnosis in a russian population using a qpcr-based approach
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8226754/
https://www.ncbi.nlm.nih.gov/pubmed/34071558
http://dx.doi.org/10.3390/diagnostics11060982
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