====== Homozygous Loss ====== **Homozygous loss** refers to the **complete deletion or inactivation of both copies (alleles)** of a gene in a diploid organism. This term is commonly used in **genetics**, **molecular biology**, and **cancer genomics**. ===== What Does It Mean? ===== Humans typically have **two copies** of each gene (one from each parent). A **homozygous loss** means that **both copies** of a gene are **deleted, mutated, or otherwise inactivated**, resulting in **loss of gene function**. ===== Example ===== In cancer, **homozygous loss of the CDKN2A gene** is common and leads to the loss of tumor suppressor function (p16^INK4a^), promoting uncontrolled cell proliferation. ===== Key Points ===== ^ Feature ^ Explanation ^ | **Zygosity** | Homozygous = both alleles are affected | | **Mechanism** | Large deletions, point mutations, LOH + mutation | | **Consequence** | Often results in **loss of gene function** | | **Clinical relevance** | Seen in tumor suppressor gene deletions (e.g., TP53, PTEN, RB1) | | **Detected by** | Genomic techniques such as FISH, aCGH, NGS, or SNP arrays |