Exclusive gene mapping of congenital microphthalmia in a Chinese family
文献类型：期刊论文
| 作者 | Yin YA1,2; Li H2,3; Zhang YP[*]2; Yu P4; Zhou Q5; Zhao LH[*]1 |
| 刊名 | CHINESE SCIENCE BULLETIN
 |
| 出版日期 | 2006 |
| 卷号 | 51期号:23页码:2868-2871 |
| 关键词 | congenital microphthalmia gene mapping microsatellite markers linkage analysis |
| 通讯作者 | zhaoluhang@263.net ; zhangyp1@263.net.cn |
| 合作状况 | 其它 |
| 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 (MITE 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. |
| 收录类别 | SCI |
| 资助信息 | This work was supported by Science and Technology Committee of Yunnan Province and the National Natural Science Foundation of China (Grant No. 30021004). |
| 语种 | 英语 |
| 源URL | [http://159.226.149.26:8080/handle/152453/10549]  |
| 专题 | 昆明动物研究所_分子进化基因组学 昆明动物研究所_细胞与分子进化开放实验室 |
| 作者单位 | 1.Department of Biochemistry and Molecular Biology, Medical College of Zhejiang University, Hangzhou 310006, China 2.Laboratory of Cellular and Molecular Evolution, and Molecular Biol- ogy 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 Uni- versity, Hangzhou 310006, China 5.Traditional Chinese Medical Hospital of Orthopedics and Traumatol- ogy, Fuyang 311400, China |
| 推荐引用方式 GB/T 7714 | Yin YA,Li H,Zhang YP[*],et al. Exclusive gene mapping of congenital microphthalmia in a Chinese family[J]. CHINESE SCIENCE BULLETIN,2006,51(23):2868-2871. |
| APA | Yin YA,Li H,Zhang YP[*],Yu P,Zhou Q,&Zhao LH[*].(2006).Exclusive gene mapping of congenital microphthalmia in a Chinese family.CHINESE SCIENCE BULLETIN,51(23),2868-2871. |
| MLA | Yin YA,et al."Exclusive gene mapping of congenital microphthalmia in a Chinese family".CHINESE SCIENCE BULLETIN 51.23(2006):2868-2871. |
入库方式： OAI收割
来源：昆明动物研究所
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