What is the primary role of DNA methylation studies in the context of Beckwith-Wiedemann Syndrome?

In the context of Beckwith-Wiedemann Syndrome (BWS), DNA methylation studies play a crucial role in identifying imprinting defects and uniparental disomy (UPD). BWS is an imprinting disorder, meaning that the expression of certain genes is regulated by the parent of origin due to epigenetic mechanisms, including DNA methylation.

Through DNA methylation analysis, geneticists can determine whether the regulatory elements responsible for gene expression are appropriately methylated or if there are alterations, such as hypomethylation or hypermethylation, that may lead to abnormal expression of imprinted genes associated with BWS. This analysis is critical in diagnosing the syndrome and understanding its etiology, as many cases of BWS are linked to aberrations in the genomic region known as 11p15, which involves important imprinted genes.

Additionally, studies may reveal instances of UPD, where both copies of a chromosome come from one parent instead of one from each parent, leading to imprinted genes being expressed inappropriately. This connection highlights the power of DNA methylation studies not only in diagnosing BWS but also in providing insights into its underlying genetic mechanisms.

The other options do not align with the primary roles of DNA