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Methyl-CpG-Binding PCR of Bloodspots for Confirmation of Fragile X Syndrome in Males
This study demonstrates that methyl-CpG-binding PCR (MB-PCR) is a rapid and simple method for detecting fragile X syndrome (FXS) in males, which is performed by verifying the methylation status of the FMR1 promoter in bloodspots. Proteins containing methyl-CpG-binding (MB) domains can be freeze-stor...
Autores principales: | , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2773378/ https://www.ncbi.nlm.nih.gov/pubmed/19893637 http://dx.doi.org/10.1155/2009/643692 |
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author | Tzeng, Ching-Cherng Liou, Chiou-Ping Li, Chien-Feng Lai, Ming-Chi Tsai, Li-Ping Cho, Wei-Chen Chang, Hui-Ting |
author_facet | Tzeng, Ching-Cherng Liou, Chiou-Ping Li, Chien-Feng Lai, Ming-Chi Tsai, Li-Ping Cho, Wei-Chen Chang, Hui-Ting |
author_sort | Tzeng, Ching-Cherng |
collection | PubMed |
description | This study demonstrates that methyl-CpG-binding PCR (MB-PCR) is a rapid and simple method for detecting fragile X syndrome (FXS) in males, which is performed by verifying the methylation status of the FMR1 promoter in bloodspots. Proteins containing methyl-CpG-binding (MB) domains can be freeze-stored and used as stocks, and the entire test requires only a few hours. The minimum amount of DNA required for the test is 0.5 ng. At this amount, detection sensitivity is not hampered, even mixing with excess unmethylated alleles up to 320 folds. We examined bloodspots from 100 males, including 24 with FXS, in a blinded manner. The results revealed that the ability of MB-PCR to detect FMR1 promoter methylation was the same as that of Southern blot hybridization. Since individuals with 2 or more X chromosomes generally have methylated FMR1 alleles, MB-PCR cannot be used to detect FXS in females. |
format | Text |
id | pubmed-2773378 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2009 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-27733782009-11-05 Methyl-CpG-Binding PCR of Bloodspots for Confirmation of Fragile X Syndrome in Males Tzeng, Ching-Cherng Liou, Chiou-Ping Li, Chien-Feng Lai, Ming-Chi Tsai, Li-Ping Cho, Wei-Chen Chang, Hui-Ting J Biomed Biotechnol Methodology Report This study demonstrates that methyl-CpG-binding PCR (MB-PCR) is a rapid and simple method for detecting fragile X syndrome (FXS) in males, which is performed by verifying the methylation status of the FMR1 promoter in bloodspots. Proteins containing methyl-CpG-binding (MB) domains can be freeze-stored and used as stocks, and the entire test requires only a few hours. The minimum amount of DNA required for the test is 0.5 ng. At this amount, detection sensitivity is not hampered, even mixing with excess unmethylated alleles up to 320 folds. We examined bloodspots from 100 males, including 24 with FXS, in a blinded manner. The results revealed that the ability of MB-PCR to detect FMR1 promoter methylation was the same as that of Southern blot hybridization. Since individuals with 2 or more X chromosomes generally have methylated FMR1 alleles, MB-PCR cannot be used to detect FXS in females. Hindawi Publishing Corporation 2009 2009-11-04 /pmc/articles/PMC2773378/ /pubmed/19893637 http://dx.doi.org/10.1155/2009/643692 Text en Copyright © 2009 Ching-Cherng Tzeng et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Methodology Report Tzeng, Ching-Cherng Liou, Chiou-Ping Li, Chien-Feng Lai, Ming-Chi Tsai, Li-Ping Cho, Wei-Chen Chang, Hui-Ting Methyl-CpG-Binding PCR of Bloodspots for Confirmation of Fragile X Syndrome in Males |
title | Methyl-CpG-Binding PCR of Bloodspots for Confirmation of Fragile X Syndrome in Males |
title_full | Methyl-CpG-Binding PCR of Bloodspots for Confirmation of Fragile X Syndrome in Males |
title_fullStr | Methyl-CpG-Binding PCR of Bloodspots for Confirmation of Fragile X Syndrome in Males |
title_full_unstemmed | Methyl-CpG-Binding PCR of Bloodspots for Confirmation of Fragile X Syndrome in Males |
title_short | Methyl-CpG-Binding PCR of Bloodspots for Confirmation of Fragile X Syndrome in Males |
title_sort | methyl-cpg-binding pcr of bloodspots for confirmation of fragile x syndrome in males |
topic | Methodology Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2773378/ https://www.ncbi.nlm.nih.gov/pubmed/19893637 http://dx.doi.org/10.1155/2009/643692 |
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