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MYOPIA 12, AUTOSOMAL DOMINANT; MYP12

MYOPIA 12, AUTOSOMAL DOMINANT; MYP12

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:230,100,000-234,700,000▼ DescriptionMyopia, or nearsightedness, is a refractive error of the eye...

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:230,100,000-234,700,000

▼ Description
Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).

For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.

▼ Mapping
In a large US family of northern European extraction, Paluru et al. (2005) found linkage of autosomal dominant high-grade myopia to 2q37.1, with a maximum multipoint lod score of 4.75 at marker D2S2344. Linkage to early-onset disorders associated with high-grade myopia (Marfan syndrome, 154700; juvenile glaucoma, see 137750; and Stickler syndrome, see 108300) was excluded to ensure that the family did not exhibit a partial phenotypic expression of these conditions limited to the ocular findings. Linkage to known candidate loci for autosomal dominant myopia was also excluded. Two positional candidate genes located at 2q37.1, S-antigen (SAG; 181031) and diacylglycerol kinase-delta (DGKD; 601826), were sequenced; no causative mutations were found.

Tags: 2q37.1