ArticleJournal of medical genetics1991
Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.
Article in Journal of medical genetics, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
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Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 138 citations in OpenAlex.
- Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation.Journal of medical genetics · 1993Guideline
- Haplotype Analysis of DXS548 and FRAXAC1 Microsatellite Loci in Iranian Patients with Fragile X Syndrome.Iranian journal of child neurology · 2018Article
- Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in theFrontiers in genetics · 2017Article
- Identification of microsatellite markers <1 Mb from the FMR1 CGG repeat and development of a single-tube tetradecaplex PCR panel of highly polymorphic markers for preimplantation genetic diagnosis of fragile X syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Improving preimplantation genetic diagnosis for Fragile X syndrome: two new powerful single-round multiplex indirect and direct tests.European journal of human genetics : EJHG · 2016Article
- Distribution of fragile X mental retardation 1 CGG repeat and flanking haplotypes in a large Chinese population.Molecular genetics & genomic medicine · 2015Article
- Etiology of autism spectrum disorder: a genomics perspective.Current psychiatry reports · 2014Review
- Flap endonuclease 1.Annual review of biochemistry · 2013Review
- Unstable mutations in the FMR1 gene and the phenotypes.Advances in experimental medicine and biology · 2012Review
- Mechanisms of trinucleotide repeat instability during human development.Nature reviews. Genetics · 2010Review
- The FMR1 gene and fragile X-associated tremor/ataxia syndrome.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2009Review
- Analysis of the Fragile X Trinucleotide Repeat in Basques: Association of Premutation and Intermediate Sizes, Anchoring AGGs and Linked Microsatellites with Unstable Alleles.Current genomics · 2008Article
- FMR1 haplotype analyses among Indians: a weak founder effect and other findings.Human genetics · 2003Article
- Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28.Journal of medical genetics · 1998Article
- Fragile X premutations are not a major cause of early menopause.American journal of human genetics · 1997Article
- Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression.American journal of human genetics · 1997Article
- Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome.Human genetics · 1996Article
- FMR1 in global populations.American journal of human genetics · 1996Article
- RS46(DXS548) genotyping of reproductive cells: approaching preimplantation testing of the fragile-X syndrome.Human genetics · 1995Article
- Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.American journal of human genetics · 1995Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report the genetic localisation of the fragile site at Xq27.3 associated with fragile X syndrome. The position of the fragile site within the multipoint linkage map was determined using two polymorphic microsatellite AC repeat markers FRAXAC1 and FRAXAC2. These markers were physically located within 10 kilobases and on either side of the p(CCG)n repeat responsible for the fragile site. FRAXAC1 has five alleles with heterozygosity of 44% and is in strong linkage disequilibrium with FRAXAC2 which has eight alleles and a heterozygosity of 71%. No recombination was observed either between these markers in 40 normal CEPH pedigrees or with the fragile X in affected pedigrees. These markers provide the means for accurate diagnosis of the fragile X genotype in families by rapid polymerase chain reaction analysis and were used to position the fragile X within the multipoint map of the X chromosome to a position 3.7 cM distal to DXS297 and 1.2 cM proximal to DXS296.
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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.