GENETICS STUDIES OF MYOPIA

近视是一种眼睛因角膜和晶状体的力量相对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病，它是一个巨大的公共卫生问题，对整个人口产生了巨大的经济影响。根据不同的研究，它对获得性失明的贡献从3-19%不等。虽然很常见，但尽管对各种动物模型进行了研究，但其发病机制尚不清楚。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。这种疾病的遗传复杂性需要广泛的合作努力来充分定位这种疾病的基因。这项建议的目标是控制导致这种疾病的基因座。使用统一的临床标准，将从两个不同的地理区域收集近视谱系。将收集合适家庭的血液样本，提取DNA，用于基因定位。基因组中每隔10 cM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数据库进行连锁分析。提示连锁的潜在区域将用来自潜在区域的额外标记进一步检查。本研究结果将：(1)确定特定的近视遗传位点；(2)估算环境暴露对近视的相对重要性；(3)为基于遗传位点的近视分类提供更合理的框架。这项研究的发现也可能进一步了解近视的发病机制，如果在某些人群中，预防环境暴露可能会改变疾病的发生或其进一步发展，则可能具有公共卫生意义。如果我们能够成功地确定导致近视的眼睛屈光成分，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.