Clinical genetic testing for fragile X syndrome by polymerase chain reaction amplification and southern blot analyses

Xiaoqiang Cai, Mohammad Arif, Haolei Wan, Ruth Kornreich, Lisa J. Edelmann

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

2 Scopus citations

Abstract

Fragile X syndrome (FXS) is characterized by mental retardation and in the vast majority of cases it is caused by expansion of CGG trinucleotide repeats in the 5′ untranslated region (or UTR) in the FMR1 gene on the X chromosome. The size and methylation status of CGG repeats are correlated with the clinical phenotype of FMR1-related disorders. The methods used for clinical genetic testing of FXS include polymerase chain reaction (PCR) amplification and Southern blot analyses, which effectively detect alleles with repeats in the normal, intermediate, premutation, and full mutation size ranges, as well as the methylation status of FMR1 promoter region.

Original languageEnglish
Title of host publicationMethods in Molecular Biology
PublisherHumana Press Inc.
Pages11-27
Number of pages17
DOIs
StatePublished - 2019

Publication series

NameMethods in Molecular Biology
Volume1942
ISSN (Print)1064-3745
ISSN (Electronic)1940-6029

Keywords

  • CGG repeat
  • FMR1
  • Fragile X syndrome
  • Methylation PCR
  • Southern blot
  • Triplet repeat-primed PCR

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