| Background: Pathological myopia (PM) is also termed malignant myopia or high myopia. It is usually defined as a refraction error equal to or above -6 diopters (D) in each eye. The pathological myopic eye is usually characterized by an abnormal lengthening of ocular axis and changes of eye matrix such as temperal crescent,pigmented epithelium thinning,leopard fundus,Fuch's spot,retinochoroid atrophy and so on, visual acuity decreases progressively. It is often accompanied by amblyopia,glaucoma,cataract,vitreous opacity and retinal detachment. It is a severe heredity eye disease which leads to low vision and blindness. For the past few years, with the further of genetics research aimed to pathological myopia, the scholars utilize the techniques such as genome scan,candidate gene screening,linkage analysis to locate the related gene of pathological myopia and the candidate gene clone. Up to now we know 6 affirmative gene loci include MYP1(Xq28),MYP2(18p11.31),MYP3(12q21-q23),MYP(47q36),MYP5(17q21~q22)和MYP1(14q22-q27). Among them, the LAMA1 gene which is situated in MYP2 is presumed as a candidate gene of pathological myopia. Because the LAMA1 gene encodings a kind of structural glycoprotein of the sclera wall—Laminin, Laminin can connect collagen fibers which is composed by microfibers. Lam discovered that the virulence gene of Chinese familial pathological myopia is situated in 18p11.3.So this article selected the LAMA1 gene to research. |