ArticleProceedings of the National Academy of Sciences of the United States of America1990
Diastrophic dysplasia gene maps to the distal long arm of chromosome 5.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1990. 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.
- Review
- Diastrophic dysplasia: prenatal diagnosis and review of the literature.Sao Paulo medical journal = Revista paulista de medicina · 2013Review
- The Finnish Disease Heritage III: the individual diseases.Human genetics · 2003Review
- High-resolution multipoint linkage-disequilibrium mapping in the context of a human genome sequence.American journal of human genetics · 2001Article
- Disequilibrium likelihoods for fine-scale mapping of a rare allele.American journal of human genetics · 1998Article
- Linkage disequilibrium mapping in isolated populations: the example of Finland revisited.Proceedings of the National Academy of Sciences of the United States of America · 1998Article
- Atelosteogenesis type 2.Journal of medical genetics · 1998Review
- Linkage disequilibrium as a gene-mapping tool.American journal of human genetics · 1995Review
- Extending the nosology of the chondrodysplasias to the cellular and molecular levels.Pediatric radiology · 1994Review
- A single-gene explanation for the probability of having idiopathic talipes equinovarus.American journal of human genetics · 1993Article
- Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO).American journal of human genetics · 1993Article
- Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers.Journal of medical genetics · 1993Article
- Light and electron microscopic abnormalities in diastrophic dysplasia growth cartilage.Calcified tissue international · 1992Article
- Exclusion map of Salla disease: attempts to localize the disease gene using a computer program.Human genetics · 1992Article
- Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22.Proceedings of the National Academy of Sciences of the United States of America · 1991Article
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4 authors.
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Abstract
We have used polymorphic DNA markers to map the gene for a clinically well-characterized form of osteochondrodysplasia, diastrophic dysplasia (DD), an autosomal recessive disorder of unknown pathogenesis. Linkage was analyzed in 13 families with two or three affected sibs comprising a total of 84 individuals. Positive two-point logarithm-of-odds (lod) scores were obtained between the DD locus and three polymorphic markers on chromosome 5. The highest pairwise lod score estimate of 7.37 with zero recombination to locus D5S72 suggests very tight linkage. There was no evidence of heterogeneity. Multipoint linkage analysis against the published order of the three loci gave the result centromere-D5S84-(DD, D5S72)-D5S61-terminus with a four-point lod score of 9.11. The present findings place the DD locus distal to the gene for adenomatous polyposis coli on the distal part of the long arm of chromosome 5. Our results provide a basis for refining the map position of the DD locus followed by physical localization, isolation, and characterization of the gene.
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