ArticleAmerican journal of human genetics1991
Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome.
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 15 papers.
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Who cites it
15 citing papers in PubMed, 44 citations in OpenAlex.
- Heritable trinucleotide repeats and neurological disorders.Experientia · 1994Review
- Molecular carrier testing for the fragile X syndrome: Issues for genetic counselors.Journal of genetic counseling · 1994Article
- Diagnosis of fragile X syndrome by direct mutation analysis.Human genetics · 1994Article
- Carrier detection of Hunter syndrome (MPS II) by biochemical and DNA techniques in families at risk.Journal of medical genetics · 1993Article
- Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.Journal of medical genetics · 1993Article
- Difficult diagnosis of the fragile X syndrome made possible by direct detection of DNA mutations.Journal of medical genetics · 1992Article
- A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.American journal of human genetics · 1992Article
- Fragile-X syndrome: unique genetics of the heritable unstable element.American journal of human genetics · 1992Article
- The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation.Chromosoma · 1992Review
- Estimating the stability of the proposed imprinted state of the fragile-X mutation when transmitted by females.Human genetics · 1992Article
- Molecular analysis of the fragile X syndrome.Journal of inherited metabolic disease · 1992Review
- 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
- Isolation of a human DNA sequence which spans the fragile X.American journal of human genetics · 1991Article
- X linked mental retardation.Journal of medical genetics · 1991Review
- Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers.American journal of human genetics · 1991Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The fragile X syndrome is the most common cause of familial mental retardation and is characterized by a fragile site at the end of the long arm of the X chromosome. The unusual genetics and cytogenetics of this X-linked condition make genetic counseling difficult. DNA studies were of limited value in genetic counseling, because the nearest polymorphic DNA loci had recombination fractions of 12% or more with the fragile X mutation, FRAXA. Five polymorphic loci have recently been described in this region of the X chromosome. The positions of these loci in relation to FRAXA were defined in a genetic linkage study of 112 affected families. The five loci--DXS369, DXS297, DXS296, IDS, and DXS304--had recombination fractions of 4% or less with FRAXA. The closest locus, DXS296, was distal to FRAXA and had a recombination fraction of 2%. The polymorphisms at these loci can be detected in DNA enzymatically digested with a limited number of restriction endonucleases. A strategy for DNA studies which is based on three restriction endonucleases and on five probes will detect one or more of these polymorphisms in 94% of women. This strategy greatly increases the utility of DNA studies in providing genetic advice to families with the fragile X syndrome.
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1671806PMC1682966W41880118What OpenQuestion holds
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