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Structural analyses of the polymorphic area in type II collagen gene
1Laboratory of Molecular Genetics, National Public Health Institute, Helsinki, Finland.
FEBS Letters
|July 3, 1989
Summary
We sequenced a conserved region of the type II collagen gene, identifying key DNA sequences for genetic analysis. This research aids in understanding collagen gene variations and their implications.
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- The type II collagen gene is highly conserved but features a polymorphic region.
- Understanding this region is crucial for genetic analyses like PCR-RFLP.
Purpose of the Study:
- To determine the nucleotide sequence of a 2.2 kb polymorphic area within the type II collagen gene.
- To provide essential data for PCR-RFLP analyses of the type II collagen gene.
Main Methods:
- DNA sequencing of a specific 2.2 kb region of the type II collagen gene.
- Comparative analysis of deduced human and bovine amino acid sequences.
- Identification of splicing signals and inverted repeats.
Main Results:
- The nucleotide sequence of the 2.2 kb polymorphic region was determined.
- Four amino acid differences were noted between human and bovine type II collagen.
- Splicing signals and inverted repeat frequencies were consistent with mammalian collagen genes.
Conclusions:
- The determined sequence facilitates PCR-RFLP analysis of the type II collagen gene.
- Human and bovine type II collagen show minor amino acid variations.
- The polymorphic region does not appear to have an unusual propensity for deletion mutations.