SHOX2 Methylation Single Gene Multi-region Standard

Product Description

The SHOX2 (Short Stature Homeobox 2) gene, located on human chromosome 3q25-q26.1, encodes an important transcription factor. This gene belongs to the highly conserved homeobox gene family and plays a crucial regulatory role in embryonic development, particularly in the formation and patterning of the heart, limbs, and central nervous system. Due to its crucial developmental function, genetic variants or dysregulated expression of SHOX2 are associated with a variety of skeletal developmental disorders.

In oncology, the SHOX2 gene exhibits distinct behaviors from these developmental functions and has become a highly sought-after epigenetic biomarker. In most normal somatic tissues, the SHOX2 promoter region is typically hypermethylated, suppressing and silencing gene expression. However, in various malignancies, particularly lung cancer (including non-small cell lung cancer and small cell lung cancer), the promoter region exhibits significant demethylation (i.e., hypomethylation). This epigenetic alteration relieves transcriptional repression, leading to abnormal reactivation and overexpression of the SHOX2 gene. This abnormal expression is closely associated with enhanced malignant cell proliferation, survival, and invasion.

Therefore, monitoring the methylation status of the SHOX2 gene, particularly in lung cancer, is of great clinical value. Measuring SHOX2 methylation levels in circulating free DNA (cfDNA) samples from bronchoalveolar lavage fluid (BALF), sputum, or plasma has been shown to be a highly effective auxiliary diagnostic tool, significantly improving the early detection rate of lung cancer and providing important evidence for the differential diagnosis of benign and malignant lung nodules.

The SHOX2 methylation standard is a core quality control tool developed to enable this precise testing. It is a precisely quantified DNA fragment treated with bisulfite in vitro, pre-programmed to fully methylate specific sites in the SHOX2 gene (typically CpG islands in the promoter region). In bisulfite conversion-based clinical testing methods (such as methylation-specific qPCR (qMSP), digital PCR, or next-generation sequencing (NGS)), it plays the following key roles:

①Positive control: Ensures the effectiveness of the entire experimental process, from DNA extraction and bisulfite conversion to PCR amplification.

②Quantitative Standards: Used to generate standard curves for absolute quantification of SHOX2 gene methylation levels in clinical samples, ensuring standardized and comparable test results.

③Quality Assessment: Monitors the sensitivity and reproducibility of each experimental batch to ensure the accuracy and reliability of clinical reporting results.

In summary, SHOX2 methylation standards are an indispensable cornerstone for promoting the standardized clinical application of SHOX2 gene methylation testing, providing a solid technical foundation for early screening and accurate diagnosis of lung cancer.

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