Exclusive gene mapping of congenital microphthalmia in a Chinese family  

作　　者：YIN Yanan LI Hui YU Ping ZHOU Qiang ZHAO Luhang ZHANG Ya-Ping 

机构地区：[1]Department of Biochemistry and Molecular Biology, Medical College of Zhejiang University, Hangzhou 310006, China [2]Laboratory of Cellular and Molecular Evolution, and Molecular Biology of Domestic Animals, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China [3]Graduate University of the Chinese Academy of Sciences, Beijing 100049, China [4]Department of Medical Genetics, Medical College of Zhejiang University, Hangzhou 310006, China [5]Traditional Chinese Medical Hospital of Orthopedics and Traumatology, Fuyang 311400, China

出　　处：《Chinese Science Bulletin》2006年第23期2868-2871,共4页

基　　金：This work was supported by Science and Technology Committee of Yunnan Province;the National Natural Science Foundation of China(Grant No.30021004).

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 pre-viously 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.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.

关 键 词：天生小眼畸形 基因映射 连接分析 医学技术 

分 类 号：R77[医药卫生—眼科]