kromosoomimutatsioon

kromosoomimutatsioon refers to alterations in the structure or number of chromosomes within a cell. These genetic changes can arise during DNA replication or cell division and may be inherited (germline) or acquired (somatic). The main categories of chromosomal mutations include deletions, duplications, inversions, translocations, insertions, and aneuploidies. Each type differs in how it disrupts genomic integrity; for example, a deletion removes a segment of genetic material, whereas a translocation exchanges segments between non‑homologous chromosomes.

The etiology of kromosoomimutatsioon is diverse. Errors in meiotic recombination, exposure to ionising radiation, certain chemicals, and deficiencies in DNA repair pathways can all contribute to chromosomal instability. Inherited predispositions, such as mutations in genes that maintain chromosome structure, also increase the likelihood of chromosomal aberrations.

Consequences of chromosomal mutations vary from benign to pathogenic. Aneuploidies such as trisomy 21, which causes Down syndrome, are well known. Smaller gene‑level changes can lead to developmental disorders, cancer predisposition, or subtle phenotypic alterations. Somatic chromosomal changes are frequently implicated in malignant transformation, as seen in translocations that activate oncogenes.

Detection methods include karyotyping, fluorescence in situ hybridisation (FISH), comparative genomic hybridisation (CGH), and next‑generation sequencing techniques that allow high‑resolution mapping of chromosomal changes. Early identification of pathogenic kromosoomimutatsioon is crucial for genetic counselling, prenatal diagnosis, and targeted therapeutic strategies.