Triplet‐Primed PCR Assays for Accurate Screening of <i>FMR1</i> CGG Repeat Expansion and Genotype Verification-Reference-Cited by-同舟云学术

Triplet‐Primed PCR Assays for Accurate Screening of FMR1 CGG Repeat Expansion and Genotype Verification

Published:2022-05 Issue:5 Volume:2 Page:
ISSN:2691-1299
Container-title:Current Protocols
language:en
Short-container-title:Current Protocols

Author:

Rajan‐Babu Indhu‐Shree¹²³,Lian Mulias⁴,Chong Samuel S.¹⁵⁶

Affiliation:

1. Department of Pediatrics, Yong Loo Lin School of Medicine National University of Singapore Singapore Singapore

2. Department of Medical Genetics University of British Columbia Vancouver British Columbia Canada

3. Children's & Women's Hospital Vancouver British Columbia Canada

4. Khoo Teck Puat–National University Children's Medical Institute National University Hospital Singapore Singapore

5. Department of Obstetrics and Gynecology, Yong Loo Lin School of Medicine National University of Singapore Singapore Singapore

6. Department of Laboratory Medicine National University Hospital Singapore Singapore

Publisher

Wiley

Subject

Medical Laboratory Technology,Health Informatics,General Pharmacology, Toxicology and Pharmaceutics,General Immunology and Microbiology,General Biochemistry, Genetics and Molecular Biology,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/cpz1.427

Reference24 articles.

1. An Information-Rich CGG Repeat Primed PCR That Detects the Full Range of Fragile X Expanded Alleles and Minimizes the Need for Southern Blot Analysis

2. High-resolution methylation polymerase chain reaction for fragile X analysis: Evidence for novel FMR1 methylation patterns undetected in Southern blot analyses

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1. Revolutionizing genetic diagnostics: Innovative techniques for inherited disease detection;Gene Reports;2024-09

2. Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome;International Journal of Molecular Sciences;2023-05-24