We have developed an improved method for polymerase chain reaction (PCR)-based sizing of the CCG repeat region at the fragile X locus, FMR-1. This method is designed to optimize denaturation and replication of long repeats with high G + C content, which are otherwise refractory to amplification. The method utilizes nested PCR primers to increase sensitivity and specificity. Alkaline denaturation of the genomic template DNA, combined with addition of glycerol and deaza-dGTP, facilitates strand separation. Labeled PCR products are sized on denaturing polyacrylamide gels. For alleles in the normal-to-premutation size range, strong reproducible signals are routinely obtained from small amounts of rapidly prepared DNA. This allows precise determination of the CCG repeat number, providing data related to the expansion potential of the repetitive segment. Detection of large premutations and some full mutations is also enhanced by the improved procedure.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.1320510448 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Effectiveness of Frequent Point-of-Care Molecular COVID-19 Surveillance in a Rural Workplace: Nonrandomized Controlled Clinical Trial Among Miners.
JMIR Public Health Surveill
January 2025
Center for Global Health, University of New Mexico Health Sciences Center, Albuquerque, NM, United States.
Background: Numerous studies have assessed the risk of SARS-CoV-2 exposure and infection among health care workers during the pandemic. However, far fewer studies have investigated the impact of SARS-CoV-2 on essential workers in other sectors. Moreover, guidance for maintaining a safely operating workplace in sectors outside of health care remains limited.
View Article and Find Full Text PDFAccess to high-fat diet results in increased sensitivity to the psychostimulant effects of MDPV in mice.
Pharmacol Rep
January 2025
Research Laboratory CoreLab of the Medical University of Lodz, Łódź, Poland.
Background: The current study investigated the effects of high-fat diet on acute response to 3,4-methylenedioxypyrovalerone (MDPV) in mice. MDPV is a beta-cathinone derivative endowed with psychostimulant activity. Similarly to recreational substances, consumption of palatable food stimulates the mesolimbic dopaminergic system, resulting in neuroadaptive changes.
View Article and Find Full Text PDFThe Regulation of Messenger RNAs and Biological Pathways by Long Non-Coding RNAs and Circular RNAs in Ischemic Stroke.
Neurochem Res
January 2025
Department of Neurology, Affiliated Hospital of Nantong University, Medical School of Nantong University, Nantong, 226001, China.
Our aim was to evaluate the regulation of messenger RNAs (mRNAs) and biological pathways by long non-coding RNAs (lncRNAs) and circular RNAs (circRNAs) in ischemic stroke. We employed weighted gene co-expression network analysis (WGCNA) to construct two co-expression networks for mRNAs with circRNAs and lncRNAs, respectively, to investigate their association with ischemic stroke. We compared the overlap of mRNAs and biological pathways in the stroke-associated modules of the two networks.
View Article and Find Full Text PDFDifferential Myf5 and Myf6 expression and muscle fiber traits in Angora, Hair, Honamlı, and Kilis goats.
Trop Anim Health Prod
January 2025
Department of Agricultural Biotechnology, Faculty of Agriculture, Kırşehir Ahi Evran University, 40100, Kirsehir, Türkiye.
The present study was conducted on specific skeletal muscles of six weaned male kids from each of the Angora, Hair, Honamlı, and Kilis goat breeds. The relationships between the expression of myogenic factor 5 (Myf5) and myogenic factor 6 (Myf6) genes and muscle fibre characteristics were analysed. Muscle samples from the longissimus dorsi (LD) and semitendinosus (ST) were collected from six 90-day-old weaned male kids of each breed.
View Article and Find Full Text PDFImpact of molecular diagnostic techniques on the acute respiratory infection sentinel surveillance program, Antioquia, Colombia, 2022.
Front Epidemiol
January 2025
GHI One Health Colombia, Universidad Nacional de Colombia, Medellín, Colombia.
Objectives: Surveillance of acute respiratory infection (ARI) informs vaccination, preventive, and management decisions. In many countries, immunofluorescence is the cornerstone for ARI surveillance. We aimed to determine the effect of adding multiplex polymerase chain reaction (mPCR) to conventional surveillance in ARI.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!