中文摘要：

先天的 microphthalmia 是由在涉及眼睛开发的基因的变化的发展眼睛的混乱和力量 becaused。揭开用与正染色体的主导的先天的 microphthalmia 纯种的 asix 产生汉语的基因原因，我们在这个家庭的 performedgenescan 和连接分析。染色体上的十四个微卫星标记 3， 11,14 和 15 根据与 microphthalmia (MITF， SOX2， PAX6， MCOP 和 NN02 ) 联系的五以前报导的 loci 作为基因标记被选择。在家谱的每个成员的 ge-nomic DNA 与标记教材的 14 荧光被放大。染色体屏蔽和 genotyping 在 AB1377 DNA 音序器上被进行，连接分析与 Linkagesoftware 包裹被执行。在建议疾病基因和 mi-crosateilite 标记之间的连接分析的所有二点的 LOD 分数是 【-2，它显示任何一个五基因都不为在这个中国家庭的 microphthalmia 负责。在这个家庭的 Microphthalmia 可以被变化在在眼睛开发必要的新基因引起。

英文摘要：

Congenital microphthalmia is a developmental ocular disorder and might be caused by the mutations in the genes involved in eye development. To uncover the genetic cause in a six-generation Chinese pedigree with autosomal dominant congenital microphthalmia, we performed genescan and linkage analysis in this family. Fourteen microsatellite markers on chromosomes 3, 11, 14 and 15 were selected as genetic markers according to the five previously reported loci associated with microphthalmia （MITF, SOX2, PAX6, MCOP and NNO2）. The genomic DNA of each member in the pedigree was amplified with 14 pairs of fluorescence labeled primers. Genome screening and genotyping were conducted on ABI377 DNA sequencer and linkage analysis was performed with Linkage software package. All two-point LOD scores of linkage analysis between the suggested disease genes and microsatellite markers were 〈-2, which indicated that none of the five genes were responsible for microphthalmia in this Chinese family. Microphthalmia in this family may be caused by mutation in a new gene which is essential in eye development.