FSHD1 Diagnosis in a Russian Population Using a qPCR-Based Approach
| Autor: | Mikhail Yurevich Skoblov, A. A. Gus’kova, Nikolay V. Zernov |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Medicine (General) Concordance Clinical Biochemistry Population Biology Article 03 medical and health sciences 0302 clinical medicine R5-920 Tandem repeat Molecular genetics medicine Allele education Genotyping FSHD1 diagnosis Southern blot Genetics education.field_of_study Penetrance qPCR 030104 developmental biology genotyping D4Z4 array 030217 neurology & neurosurgery |
| Zdroj: | Diagnostics, Vol 11, Iss 982, p 982 (2021) Diagnostics Volume 11 Issue 6 |
| ISSN: | 2075-4418 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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