Biszulfátszekvenálás

Biszulfátszekvenálás is a molecular biology technique used to determine the DNA sequence of specific regions within a genome. It is particularly useful for analyzing challenging DNA samples, such as those that are degraded or highly methylated. The core principle involves the enzymatic digestion of DNA using bisulfite. This treatment selectively deaminates unmethylated cytosine residues to uracil, while methylated cytosines remain unchanged. Following bisulfite treatment, the modified DNA is then amplified and sequenced using standard methods like Sanger sequencing or next-generation sequencing. The resulting sequence can then be compared to a reference genome to identify CpG methylation patterns. Regions with a reduction in cytosines (where uracil has replaced cytosine) indicate unmethylated sites, while the presence of cytosines at those positions suggests methylation. Bisulfátszekvenálás is a critical tool in epigenetics research, allowing scientists to investigate how DNA methylation, a key epigenetic modification, influences gene expression and cellular function. Its application extends to cancer research, developmental biology, and studies of various disease states where altered methylation patterns are implicated.