GENETICS STUDIES OF MYOPIA

近视是一种眼睛相对较长的角膜和晶状体的力量导致视力模糊的疾病。由于近视是世界上最常见的眼疾，它是一个巨大的公共健康问题，对广大人口的经济影响很大。根据研究的不同，它对后天失明的贡献从3%到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。这种疾病遗传学的复杂性需要广泛的合作努力来充分定位这种疾病的基因(S)。这项提案的目标是遏制导致这种疾病的基因座。使用统一的临床标准，近视家系将从两个不同的地理区域收集。将从合适的家系中收集血液样本进行DNA提取，并用于基因图谱绘制。位于基因组中每隔10 cM的微卫星重复标记将用于基因分型。这些基因数据将被用来创建连锁分析数据库。暗示连锁的潜在区域将用来自潜在区域的其他标记进一步检查。这项研究的结果将(1)确定近视的特定遗传基因座，(2)允许估计环境暴露对近视的相对重要性，以及(3)为基于遗传基因座的近视分类提供更合理的框架。这项研究的发现也可能提供对近视发病机制的进一步了解，并可能对公众健康产生影响，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进一步发展。如果我们成功地确定了导致近视发展的眼睛的屈光成分(S)，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.