Genetic linkage of mild pseudoachondroplasia (PSACH) to markersin the pericentromeric region of chromosome 19
| Autor: | I. Merete Rasmussen, Juliet Yuen, David L. Rimoin, Michael D. Briggs, Daniel H. Cohn, James L. Weber, Kent Reinker, Ann Garber |
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| Rok vydání: | 1993 |
| Předmět: |
Genetic Markers
Male Genotype Genetic Linkage Dwarfism Biology Achondroplasia Pseudoachondroplasia Gene mapping Genetic linkage Chromosome 19 Genetics medicine Humans Allele Alleles Recombination Genetic Chromosome Mapping Chromosome medicine.disease Pedigree Genetic marker Female Lod Score Chromosomes Human Pair 19 |
| Zdroj: | Genomics. 18:656-660 |
| ISSN: | 0888-7543 |
| Popis: | Pseudoachondroplasia (PSACH) is a dominantly inherited form of short-limb dwarfism characterized by dysplastic changes in the spine, epiphyses, and metaphyses and early onset osteoarthropathy. Chondrocytes from affected individuals accumulate an unusual appearing material in the rough endoplasmic reticulum, which has led to the hypothesis that a structural abnormality in a cartilage-specific protein produces the phenotype. We recently identified a large family with a mild form of pseudoachondroplasia. By genetic linkage to a dinucleotide repeat polymorphic marker (D19S199), we have localized the disease gene to chromosome 19 (maximum lod score of 7.09 at a recombination fraction of 0.03). Analysis of additional markers and recombinants between the linked markers and the phenotype suggests that the disease gene resides within a 6.3-cM interval in the immediate pericentromeric region of the chromosome. |
| Databáze: | OpenAIRE |
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