机构：[1]Department of Genetics, National Research Institute for Family Planning, Peking Union Medical College, Beijing, China[2]WHO Collaborative Center for Research in Human Reproduction, Beijing, China[3]Beijing Tongren Eye Center, Capital Medical University, Beijing, China首都医科大学附属北京同仁医院首都医科大学附属同仁医院
To identify the genetic defect in a four-generation Chinese family with autosomal dominant congenital nuclear cataract.Family history data were recorded. Clinical and ophthalmologic examinations were performed on family members. All the members were genotyped with microsatellite markers at loci associated with cataracts. Linkage analysis was performed after genotyping. Candidate genes were screened for mutation using direct sequencing.Linkage analysis was obtained at markers D1S1653 (LOD score [Z] = 1.50, recombination fraction [theta] = 0.0) and D1S498 (LOD score Z = 0.90, recombination fraction [theta] = 0.0), which encompasses the connexin 50 gene (GJA8). Sequencing the coding regions of GJA8 revealed a novel, heterozygous c.773C > T transition that resulted in the substitution of a highly conserved serine by phenylalanine at codon 258 (S258F). Bioinformatics analysis showed that the mutation altered the hydrophobicity and secondary structure of the protein. This mutation co-segregated with the disease phenotype in all affected individuals and was not found in the unaffected family members or in 100 normal unrelated individuals.This study has identified a novel missense mutation located in the carboxyl terminus of GJA8 (S258F) associated with autosomal dominant nuclear cataract.
基金：
The work was supported
by the National Basic Research Program of China
(grant no. 2010CB529504), the National Infrastructure
Program of Chinese Genetic Resources (grant no.
2006DKA21301), the Denaturing High-performance
Liquid Chromatography System Uptate and Its
Application in Chinese Genetic Resources (grant no.
2006JG006100), Important National Science & Technology Specific Projects (grant no. 2009ZX09308-006),
and National Nonprofit Institute Research Grant of
NRIFP.
第一作者机构：[1]Department of Genetics, National Research Institute for Family Planning, Peking Union Medical College, Beijing, China[2]WHO Collaborative Center for Research in Human Reproduction, Beijing, China
共同第一作者：
通讯作者：
通讯机构：[3]Beijing Tongren Eye Center, Capital Medical University, Beijing, China[*1]Beijing Tongren Eye Center, Capital Medical University, Beijing, China, or Xu Ma, Department of Genetics, National Research Institute for Family Planning, Peking Union Medical College, 12 Da-hui-si, Hai Dian, Beijing 100081, China
推荐引用方式(GB/T 7714)：
Gao Xiaobo,Cheng Jie,Lu Cailing,et al.A Novel Mutation in the Connexin 50 Gene (GJA8) Associated with Autosomal Dominant Congenital Nuclear Cataract in a Chinese Family[J].CURRENT EYE RESEARCH.2010,35(7):597-604.doi:10.3109/02713681003725831.
APA：
Gao Xiaobo,Cheng Jie,Lu Cailing,Li Xiaoqiao,Li Feifeng...&Ma Xu.(2010).A Novel Mutation in the Connexin 50 Gene (GJA8) Associated with Autosomal Dominant Congenital Nuclear Cataract in a Chinese Family.CURRENT EYE RESEARCH,35,(7)
MLA：
Gao Xiaobo,et al."A Novel Mutation in the Connexin 50 Gene (GJA8) Associated with Autosomal Dominant Congenital Nuclear Cataract in a Chinese Family".CURRENT EYE RESEARCH 35..7(2010):597-604
