ArticleAmerican journal of human genetics1993
Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.
Article in American journal of human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 2 of them syntheses that pooled it.
What it found
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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.
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Who cites it
63 citing papers in PubMed, 2 syntheses or guidelines pooled it, 227 citations in OpenAlex.
- Dysmorphic syndromes with overgrowth - systematic review, part 2: chromosomal and epigenetic disorders and disorders associated with dynamic mutations.Pediatric endocrinology, diabetes, and metabolism · 2026Pooled it
- Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors.Journal of genetic counseling · 2005Guideline
- Screening for Fragile X Syndrome Among Filipino Children with Autism Spectrum Disorder.Journal of autism and developmental disorders · 2023Article
- Mortality in Women across theCells · 2023Article
- FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers.American journal on intellectual and developmental disabilities · 2023Article
- IsFrontiers in psychiatry · 2021Article
- Article
- Genetic reduction of MMP-9 in the Fmr1 KO mouse partially rescues prepulse inhibition of acoustic startle response.Brain research · 2019Article
- Review
- HPA axis function predicts development of working memory in boys with FXS.Brain and cognition · 2016Article
- Advanced technologies for the molecular diagnosis of fragile X syndrome.Expert review of molecular diagnostics · 2015Review
- Group I metabotropic glutamate receptor mediated dynamic immune dysfunction in children with fragile X syndrome.Journal of neuroinflammation · 2014Article
- Low-normal FMR1 CGG repeat length: phenotypic associations.Frontiers in genetics · 2014Article
- The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective.Frontiers in genetics · 2014Review
- Altered neural activity of magnitude estimation processing in adults with the fragile X premutation.Journal of psychiatric research · 2013Article
- The pur protein family: genetic and structural features in development and disease.Journal of cellular physiology · 2013Review
- Carrier screening in preconception consultation in primary care.Journal of community genetics · 2012Article
- Depression and anxiety symptoms among women who carry the FMR1 premutation: impact of raising a child with fragile X syndrome is moderated by CRHR1 polymorphisms.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2012Article
- The FMR1 premutation and attention-deficit hyperactivity disorder (ADHD): evidence for a complex inheritance.Behavior genetics · 2012Article
- Fragile X syndrome: the FMR1 CGG repeat distribution among world populations.Annals of human genetics · 2012Review
3 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
In this study, we have characterized a CGG repeat at the FMR-1 locus in more than 100 families (more than 500 individuals) presenting for fragile X testing and in 247 individuals from the general population. Both Southern blot and PCR-based assays were evaluated for their ability to detect premutations, full mutations, and variability in normal allele sizes. Among the Southern blot assays, the probes Ox1.9 or StB12.3 with a double restriction-enzyme digest were the most sensitive in detecting both small and large amplifications and, in addition, provided information on methylation of an adjacent CpG island. In the PCR-based assays, analysis of PCR products on denaturing DNA sequencing gels allowed the most accurate determination of CGG repeat number up to approximately 130 repeats. A combination of a Southern blot assay with a double digest and the PCR-sequencing-gel assay detected the spectrum of amplification-type mutations at the FMR-1 locus. In the patient population, a CGG repeat of 51 was the largest to be stably inherited, and a repeat of 57 was the smallest size of premutation to be unstably inherited. When premutations were transmitted by females, the size of repeat correlated with risk of expansion to a full mutation in the next generation. Full mutations (large repeats typically associated with an abnormal methylation pattern and mitotic instability) were associated with clinical and cytogenetic manifestations in males but not necessarily in females. In the control population, the CGG repeat ranged from 13 to 61, but 94% of alleles had fewer than 40 repeats. The most frequent allele (34%) was a repeat of 30. One female had an allele (61 repeats) within a range consistent with fragile X premutations, while two other individuals each had a repeat of 52. This suggests that the frequency of unstable alleles in the general population may be approximately 1%.
Indexed as
Identifiers
7902673PMC1682501W1574448204What 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.