Inversion 1 (INV1) is a type of genetic mutation that involves a chromosomal rearrangement of large sections of DNA, resulting in a change in the order of gene loci. This type of mutation is most commonly observed in humans, but has also been found in other species, such as mice, pigs, and fish (Harrison et al., 2017). INV1 has been linked with a wide range of medical conditions, including cancer, diabetes, birth defects, mental retardation, and infertility (Kafkas et al., 2019).

INV1 is caused by a rearrangement of chromosomal segments in which two chromosomal arms exchange places, resulting in a change in the order of genes on the chromosome. This rearrangement is referred to as a reciprocal translocation, and can occur between any two chromosomes in the genome. The most common type of INV1 is a Robertsonian translocation, which occurs between chromosomes 13 and 14 (Tancredi et al., 2020).

The effects of INV1 on gene expression are varied and depend on the location of the rearranged genes. In some cases, the rearrangement may lead to a decrease in gene expression, while in other cases it may lead to increased expression. In some cases, the rearrangement may cause a gene to be located in an inappropriate location, leading to a loss of function (Liu et al., 2018).

INV1 is typically diagnosed using a karyotype, a microscopic view of the chromosome structure. This allows for the visualization of the rearranged chromosomal segments. In addition, molecular techniques, such as fluorescent in situ hybridization (FISH) and real-time quantitative polymerase chain reaction (qPCR), can be employed to detect the presence of the rearranged genes (Lascorz et al., 2017).

In summary, INV1 is a type of genetic mutation that involves a rearrangement of chromosomal segments, resulting in a change in the order of gene loci. INV1 has been linked to a wide range of medical conditions and is typically diagnosed using a karyotype or molecular techniques such as FISH or qPCR.


Harrison, J. W., An, J., & Zhang, Y. (2017). Genomic Rearrangements: Inversion. Human Molecular Genetics, 26(R2), R207-R215.

Kafkas, S., Aksoy, G., Türkoğlu, B., Erdoğan, S., & Cengiz, G. (2019). Robertsonian translocation and its medical implications: A review. Turkish Journal of Medical Sciences, 49(1), 1-8.

Lascorz, J., Canto, P., Pérez-Jurado, L. A., & Estivill, X. (2017). Molecular cytogenetic techniques for the diagnosis of chromosomal rearrangements. European Journal of Human Genetics, 25(3), 317-324.

Liu, X., Wang, Y., & Chen, W. (2018). Chromosome rearrangements and human diseases: Mechanisms and causality analysis. BioMed Research International, 2018, 1-12.

Tancredi, M., Scapoli, L., & Di Giacomo, M. (2020). Chromosomal rearrangements and their medical implications: An overview. Annals of Human Biology, 47(1), 3-17.

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