Genetic testing kit for Frasier syndrome (DNA electrophoresis)

The mystery of the origin of ovarian development finally solved!

Context of the experiment: While the gene SrY (Y chromosome) has been identified for 30 years as responsible for the differentiation of gonads into testes, the question remained unanswered for the formation of ovaries. In 2023, an international team and INSERM finally unraveled this mystery by understanding the functioning of the gene WT1, involved in the cellular differentiation of ovarian development.
The Frasier Syndrome
As often happens in genetic research, it was a rare anomaly that led researchers to the trail of the Wt1 gene, carried by chromosome 11. Indeed, this syndrome is characterized by an alteration of renal function, to which is added, in XY individuals, female genital organs. This improved understanding of ovarian formation will help improve the diagnosis of malformations.

Principle: This DNA electrophoresis practical work takes the form of a diagnostic test. The genetic test is based on the principle of ARMS PCR allowing the identification of mutations present in the studied genes through electrophoresis. The goal is to identify which gene, SrY or Wt1, is involved in the syndrome. The genotypes of 2 healthy individuals XX and XY are compared with an XY individual affected by Frasier syndrome. Results in the classroom are obtained in 20 minutes, through agarose gel electrophoresis (2%). Simple to implement, this short experiment allows for electrophoresis as early as the Second grade.

Composition: Pre-calibrated DNA ready to be deposited and 1 tube of molecular weight ladder Format: 20 tests, totaling 80 deposits to analyze + 10 deposits (MW) Duration of the experiment: 45 min 2% agarose gel