Myopia is one of the ophthalmological problems that currently plagues many people. It is often difficult for myopia individuals to see distant objects. This is because the eyes pay attention to close-up things for a long time, causing the focused muscles in the eyes to remain in focus, and the eyes cannot focus properly. It is clinically considered that the degree of eye is above 600 degrees for high myopia, with the pathological change that the refractive index of the myopic axis is prolonged. High myopia may cause eye diseases such as retinal detachment, cataract and glaucoma. Causes of high myopia may include genetic and environmental factors. Between them, the influence of genetic factors can not be underestimated, and its interaction with environmental factors may lead to high myopia which has a certain genetic susceptibility.
TGF-β and its receptor are expressed in ocular tissues. TGF-β stimulates the proliferation of chondrocytes and sclera into fibroblasts and participates in the regulation of scleral remodeling. LRPAP1 gene is located on chromosome 4p16.3. Proteins encoded by LRPAP1 can affect the activity of TGF-β, which may further lead to high myopia by affecting scleral remodeling. SLC39A5 gene is located on chromosome 12q13.3, and the encoded protein regulates zinc ion transport in the eye, which may affect the development of the eye and collagen synthesis by inducing TGF-β/BMP-Smad signaling pathway to induce high myopia. SCO2 gene is located on chromosome 22q13.33, and its encoded protein has an effect on the copper homeostasis protein in cytochrome c oxidase activity. The deficiency of copper is related to the loss of photoreceptor and the myopia caused by increased elasticity of the scleral wall. It has been reported that SCO2 mutations are associated with thinning of the retina. PRIMPOL gene encodes a primate polymerase that has been reported to be a myopic-associated gene. The mutation of tyrosine 89 to aspartic acid in PRIMPOL causes a decrease in enzyme activity, which affects DNA replication and may cause high myopia. In addition, genes such as ZNF644, IGF-1, GRM6 and CTNND2 have been reported to have a potential relationship with high myopia.
To better understand these genetic mutations and the production of high myopia, our platform provides a comprehensive and accurate custom high myopia panel through target DNA sequencing by the Illumina MiSeq or Ion PGM system, from which you can select genes to detect high myopia.
For more information about the Custom High Myopia Panel or need other amplification requirements, please contact us.