Identification of a novel mutation in the COL2A1 gene
in a Chinese family with spondyloepiphyseal dysplasia congenita.
expression was significantly (p < 0.05) increased in SMEs from the control group in comparison to SMEs from the control group challenged with LPS and those SMEs cultured with both PRG supernatants at both concentrations (Figure 6).
However, the COL2A1 gene
did not co-segregate with phenotype in the eight affected individuals.
The Col2A1 gene
was detected only in the treated cells in normoxic conditions with a Cp value of 31 (media of the three donors).
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.
Mutations in the COL11A1, COL11A2 and COL2A1 genes
cause Stickler syndrome.