ArticleAmerican journal of human genetics1991
Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers.
Article in American journal of human genetics, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 44 citations in OpenAlex.
- 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
- Nucleosomal occupancy and CGG repeat expansion: a comparative analysis of triplet repeat region from mouse and human fragile X mental retardation gene 1.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2011Article
- Sequence variation within the fragile X locus.Genome research · 2001Article
- A variable domain of delayed replication in FRAXA fragile X chromosomes: X inactivation-like spread of late replication.Proceedings of the National Academy of Sciences of the United States of America · 1997Article
- X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.American journal of human genetics · 1997Article
- Molecular carrier testing for the fragile X syndrome: Issues for genetic counselors.Journal of genetic counseling · 1994Article
- Molecular analysis of a ring chromosome X in a family with fragile X syndrome.Human genetics · 1993Article
- Linkage mapping of a severe X-linked mental retardation syndrome.American journal of human genetics · 1993Article
- Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.American journal of human genetics · 1992Article
- Experience with direct molecular diagnosis of fragile X.Journal of medical genetics · 1992Article
- Fragile-X syndrome: unique genetics of the heritable unstable element.American journal of human genetics · 1992Article
- Molecular analysis of the fragile X syndrome.Journal of inherited metabolic disease · 1992Review
- Genotype prediction in the fragile X syndrome.Journal of medical genetics · 1991Article
- Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.Journal of medical genetics · 1991Article
- An STS at the D16S290 locus.Nucleic acids research · 1991Article
- Dinucleotide repeat polymorphism at the D16S288 locus.Nucleic acids research · 1991Article
- Dinucleotide repeat polymorphisms at the DXS294 and DXS300 loci in Xq26.Nucleic acids research · 1991Article
- Isolation of a human DNA sequence which spans the fragile X.American journal of human genetics · 1991Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We describe two highly polymorphic microsatellite AC repeat sequences, VK23AC and VK14AC, which are closely linked to the fragile X at Xq27.3. Both VK23AC (DXS297) and VK14AC (DXS292) are proximal to the fragile site. Two-point linkage analysis in 31 fragile X families gave (a) a recombination frequency of 1% (range 0.00%-4%) with a maximum lod score of 32.04 for DXS297 and (b) a recombination frequency of 7% (range of 3%-15%) with a maximum lod score of 12.87 for DXS292. Both of these polymorphisms are applicable to diagnosis by linkage in families with fragile X syndrome. A multipoint linkage map of genetic markers at Xq27.3 was constructed from genotyping these polymorphisms in the CEPH pedigrees. The DXS292 marker is in the DXS98-DXS297 interval and in 3 cM proximal to DXS297.
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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.