Marjoleine schreef:Ik kreeg een vraag over Renal Dysplasia.
Dat is simpel gezegd onvolledig aangelegde nieren.
Ik zoek me gek maar kan er weinig over vinden.
Er is een gentest maar het is niet helemaal duidelijk of die wel betrouwbaar is, of dat het hier toch gaat om onvolledig dominant.
Daarom mijn vraag: iemand die dit kent? Klopt het dat die test niet altijd betrouwbaar is?
Het komt oa voor bij boxer, Duitse dog, Portugees, Malamute en Samojeed.
Je moet op Google-scholar zoeken. Daar kun je allerhande wetenschappelijke publicaties vinden.
http://www.biomedcentral.com/content/p ... urn false;
Samenvatting:
Abstract
Background:
Novel allelic variants in the promoter of the canine cyclooxygenase-2 (Cox-2) gene are associated
with renal dysplasia (RD). These variants consist of either deletions of putative SP1 transcription factor-binding sites
or insertions of tandem repeats of SP1-binding sites located in the CpG island just upstream of the ATG translation
initiation site. The canine Cox-2 gene was studied because Cox-2-deficient mice have renal abnormalities and a
pathology that is strikingly similar to RD in dogs.
Findings:
The allelic variants were associated with hypermethylation of the Cox-2 promoter only in clinical cases of
RD. The wild-type allele was never methylated, even in clinical cases that were heterozygous for a mutant allele. In
cases that were biopsy-negative, the promoter remained unmethylated, regardless of the genotype. Methylated
DNA was found in DNA from various adult tissues of dogs with clinical RD.
Conclusions:
The mechanism of action of the allelic variation in the canine Cox-2 promoter most likely involves
variation in the extent of epigenetic downregulation of this gene. This epigenetic downregulation must have
occurred early in development because methylated Cox-2 promoter DNA sequences are found in various adult
tissues.