However, the COL2A1 gene
did not co-segregate with phenotype in the eight affected individuals.
Clinical evaluation and COL2A1 gene
analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.
To prove that DNA from an extinct species can still work, the team chose a regulatory element, called an enhancer, which regulates the COL2A1 gene
, says Andrew Pask, a molecular biologist at the University of Melbourne.
Identification of mutations and polymorphisms in the COL2A1 gene
by temporal temperature gradient gel electrophoresis.
qRT-PCR analysis also confirmed that Agg gene expression was significantly downregulated and significantly different than that in the controls; however, COL2A1 gene
expression was upregulated at 3 days, and this trend was consistent with the results of histological and IHC analyses.