Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias.

Journal article

Seventy-seven persons with a variety of heritable chondrodysplasias were screened for gross rearrangements of the structural gene encoding the major cartilage collagen, collagen II. None was found. Segregation of the locus (COL2A1) was studied in 19 pedigrees using three restriction site dimorphisms (shown by PvuII, HindIII, and BamHI) and a length polymorphism as linkage markers. Discordant segregation between COL2A1 and the mutant locus was seen in pedigrees with multiple epiphyseal dysplas...

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Authors: Wordsworth, P; Ogilvie, D; Priestley, L; Smith, R; Wynne-Davies, R

• Publication status: Published
• Journal: Journal of medical genetics
• Volume: 25
• Issue: 8
• Pages: 521-527
• Publication date: 1988-08-01
• DOI: 10.1136/jmg.25.8.521
• EISSN: 1468-6244
• ISSN: 0022-2593
• Language: English
• Keywords: Pedigree; Humans; DNA; Genes; Genetic Markers; Female; Calcium-Binding Proteins; Male; Collagen Type II; Chromosome Mapping; Cartilage Diseases; Protein Precursors; Polymorphism, Restriction Fragment Length; Collagen; Collagen Diseases; DNA Mutational Analysis