ArticleAmerican journal of human genetics1992
The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD).
Article in American journal of human genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 40 citations in OpenAlex.
- Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism.Neurology. Genetics · 2019Article
- SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.Nucleic acids research · 2019Article
- Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.Journal of medical genetics · 1998Article
- Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.Journal of medical genetics · 1996Article
- Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD).Human genetics · 1994Article
- De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1).Archives of disease in childhood · 1994Article
- The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 1994Article
- A radiation hybrid map of 15 loci on the distal long arm of chromosome 4, the region containing the gene responsible for facioscapulohumeral muscular dystrophy (FSHD).American journal of human genetics · 1993Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Four DNA markers on the distal long arm of chromosome 4 have been analyzed for their linkage relationship to facioscapulohumeral muscular dystrophy (FSHD) in a series of 23 families with this disease. Two hypervariable markers, pH30 (D4S139) and EFD 139.1 (D4S184), both show close linkage with the disorder, with a maximum recombination fraction (theta max) of .02 and a maximum lod score (Zmax) of 36.77 and 34.50, respectively; two other markers, the locus for factor XI (F11) and the microsatellite marker Mfd22 (D4S171), both show less close linkage, with respective theta max of .16 (Zmax = 3.40) for F11 and .24 (Zmax = 1.61) for D4S171. While the relative ordering and orientation of the loci on the chromosome remain provisional, analysis of 15 individual recombination events in seven families supports the order D4S171-F11-D4S184-D4S139-FSHD, with the disease locus telomeric to all four markers.
Indexed as
Identifiers
1642238PMC1682684W1550199513What OpenQuestion holds
Registered trials
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