دورية أكاديمية
أعرض في EDS

First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions.

التفاصيل البيبلوغرافية
العنوان: First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions.
المؤلفون: Schlaich E; Institute for Human Genetics and Genome Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany., Hubens WHG; Institute for Stem Cell Biology, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Helmholtz Institute for Biomedical Engineering, RWTH Aachen University, Aachen, Germany., Eggermann T; Institute for Human Genetics and Genome Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Dec; Vol. 11 (12), pp. e2264. Date of Electronic Publication: 2023 Jul 31.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [Hoboken, NJ] : John Wiley & Sons, [2013]-
مواضيع طبية MeSH: Beckwith-Wiedemann Syndrome*/diagnosis , Beckwith-Wiedemann Syndrome*/genetics , Silver-Russell Syndrome*/diagnosis , Silver-Russell Syndrome*/genetics , Imprinting Disorders*, Humans ; DNA Methylation ; Genomic Imprinting ; Multiplex Polymerase Chain Reaction
مستخلص: Background: Beckwith-Wiedemann syndrome and Silver-Russel syndrome are two imprinting disorders caused by opposite molecular alterations in 11p15.5. With the current diagnostic tests, their molecular diagnosis is challenging due to molecular heterogeneity and mosaic occurrence of the most frequent alterations. As the determination of precise (epi)genotype of patients is relevant as the basis for a personalized treatment, different approaches are needed to increase the sensitivity of diagnostic testing of imprinting disorders.
Methods: We established methylation-specific droplet digital PCR approaches (MS-ddPCR) for the two imprinting centers in 11p15.5, and analyzed patients with paternal uniparental disomy of chromosome 11p15.5 (upd(11)pat) and other imprinting defects in the region. The results were compared to those from MS-MLPA (multiplex ligation-dependent probe amplification) and MS-pyrosequencing.
Results: MS-ddPCR confirmed the molecular alterations in all patients and the results matched well with MS-MLPA. The results of MS-pyrosequencing varied between different runs, whereas MS-ddPCR results were reproducible.
Conclusion: We show for the first time that MS-ddPCR is a reliable and easy applicable method for determination of MS-associated changes in imprinting disorders. It is therefore an additional tool for multimethod diagnostics of imprinting disorders suitable to improve the diagnostic yield.
(© 2023 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)
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معلومات مُعتمدة: EG 115/13-1 Deutsche Forschungsgemeinschaft
فهرسة مساهمة: Keywords: MS-MLPA; MS-ddPCR; MS-pyrosequencing; imprinting disorders; mosaicism
تواريخ الأحداث: Date Created: 20230731 Date Completed: 20231218 Latest Revision: 20231218
رمز التحديث: 20231218
مُعرف محوري في PubMed: PMC10724498
DOI: 10.1002/mgg3.2264
PMID: 37519217
قاعدة البيانات: MEDLINE
الوصف
تدمد:2324-9269
DOI:10.1002/mgg3.2264