GENETICS STUDIES OF MYOPIA

近视是一种眼睛相对于角膜和透镜的屈光力较长而导致视力模糊的疾病。由于近视是世界上最常见的眼部疾病，因此它是一个巨大的公共卫生问题，对整个人口产生巨大的经济影响。它对后天性失明的贡献取决于研究，从3-19%不等。虽然非常常见，但尽管对各种动物模型进行了研究，但对其发病机制仍无确切了解。许多不同的研究提供了令人信服的证据，表明近视是遗传的。这种疾病的遗传学的复杂性需要广泛的合作努力，以充分定位这种疾病的基因。这项建议的目的是包含负责这种疾病的位点。使用统一的临床标准，将从两个不同的地理区域收集受近视影响的家系。将从合适的家庭收集血液样本，用于DNA提取，用于遗传图谱。基因组中以10 cM间隔定位的微卫星重复标记将用于基因型生成。基因型数据将用于建立连锁分析数据库。将用来自潜在区域的其他标记进一步检查暗示连锁的潜在区域。本研究的结果将（1）确定近视的特定遗传位点，（2）允许估计环境暴露对近视的相对重要性，（3）提供基于遗传位点的近视分类的更合理的框架。这项研究的结果也可能进一步了解近视的发病机制，如果有一些人群预防环境暴露可能会改变疾病的发作或进一步进展，则可能会对公共卫生产生影响。如果我们成功地定义了导致近视发展的眼睛的屈光成分，这将具有更大的相关性。

Myopia is a disorder in which the eye is relatively long for the power of the cornea and lens resulting in blurred vision. Because myopia is the most common eye condition in the world, it is an enormous public health problem with a large economic impact on the population at large. Its contribution to acquired blindness varies from 3-19% depending on the study. Although very common, nothing secure is known about its pathogenesis despite studies of various animal models. A number of different studies provide compelling evidence indicating that myopia is inherited. The complexity of the genetics of this disorder requires a broad based collaborative effort to adequately locate the gene(s) for this disorder. The goal of this proposal is to contain the loci responsible for this disorder. Using uniform clinical criteria, pedigrees affected with myopia will be collected from two separate geographic regions. Blood samples from suitable families will be collected for DNA extraction which will be used for genetic mapping. Microsatellite repeat markers located at 10 cM intervals through the genome will be used for genotype generation. The genotype data will be utilized to create databases for linkage analysis. Potential areas suggestive of linkage will be further examined with additional markers from the potential region. The results of this investigation will (1) identify specific genetic loci for myopia, (2) permit an estimate of the relative importance of environmental exposure on myopia, and (3) provide a more rational framework for the classification of myopia based on genetic locus. Findings from this study may also provide further understanding of the pathogenesis of myopia and may have public health implications if there are some segments of the population in which preventing environmental exposures may alter the onset of disease or its further progression. This will have an even greater relevance if we are successful at defining the refractive component(s) of the eye which is responsible for the development of myopia.