Methyl-CpG-Binding PCR of Bloodspots for Confirmation of Fragile X Syndrome in Males

  • Tzeng C
  • Liou C
  • Li C
  • et al.
N/ACitations
Citations of this article
16Readers
Mendeley users who have this article in their library.

Abstract

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.

Cite

CITATION STYLE

APA

Tzeng, C.-C., Liou, C.-P., Li, C.-F., Lai, M.-C., Tsai, L.-P., Cho, W.-C., & Chang, H.-T. (2009). Methyl-CpG-Binding PCR of Bloodspots for Confirmation of Fragile X Syndrome in Males. Journal of Biomedicine and Biotechnology, 2009, 1–8. https://doi.org/10.1155/2009/643692

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free