ArticleHuman genetics1996
A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males.
Article in Human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 65 citations in OpenAlex.
- Genome-wide detection of short tandem repeat expansions by long-read sequencing.BMC bioinformatics · 2020Article
- Microsatellite Analysis of Geographically Close Isolates ofFrontiers in veterinary science · 2019Article
- Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.Molecular psychiatry · 2018Article
- Interrogating the "unsequenceable" genomic trinucleotide repeat disorders by long-read sequencing.Genome medicine · 2017Article
- Article
- FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile.Genetics research · 2016Article
- Finding FMR1 mosaicism in Fragile X syndrome.Expert review of molecular diagnostics · 2016Article
- Advanced technologies for the molecular diagnosis of fragile X syndrome.Expert review of molecular diagnostics · 2015Review
- Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.PloS one · 2014Article
- Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report.Molecular cytogenetics · 2012Article
- A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis.The Journal of molecular diagnostics : JMD · 2010Article
- A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome.Clinical chemistry · 2010Article
- You can build it ... but will they come?: the potential "expansion" of testing methodologies for fragile X syndrome.The Journal of molecular diagnostics : JMD · 2009Article
- Methylation-specific multiplex ligation-dependent probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles.The Journal of molecular diagnostics : JMD · 2008Article
- Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition.Molecular psychiatry · 2008Article
- A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations.The Journal of molecular diagnostics : JMD · 2008Article
- An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene.The Journal of molecular diagnostics : JMD · 2005Article
- Molecular and cytogenetic analyses on Brazilian youths with pervasive developmental disorders.Journal of autism and developmental disorders · 2002Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ever since the identification of the genetic cause of fragile X syndrome as the expansion of an unstable trinucleotide sequence, several diagnostic strategies have evolved from molecular studies. However, we still lack a simple test suitable for population screening. We have therefore developed a nonisotopic polymerase chain reaction (PCR)-based technique for the identification of fragile X full mutations among men, with easy visualization of the PCR products on silver-stained polyacrylamide gels. The technique consists of PCR amplification with primers that flank the trinucleotide repeats, with a product of 557 bp for the (CGG)29 allele. Conditions were established such that full mutations failed to amplify and were thus identified with 98% sensitivity compared with Southern blot analysis. To produce an indispensable internal control we added to the reaction a third primer, internal to this fragment, allowing the multiplex amplification of a monomorphic band corresponding to a CG-rich stretch 147 bp upstream of the polymorphic region. In trials involving 41 patients and 74 controls, the PCR-based test here described showed specificity of more than 98.6%, accuracy of 99% and a sensitivity of 98%. Thus, although not suitable for medical diagnosis, it constitutes a useful tool for screening for the fragile X syndrome in populations of mentally retarded males.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.