A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family
A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family
复制标题
一个中国家系中与常染色体显性先天性核性白内障相关的 CRYGC 无义突变
作者：
申屠形超
目的 鉴定中国家族中与常染色体显性先天性核性白内障相关的遗传缺陷。方法记录家族史和表型数据，并通过裂隙灯摄影记录表型。从外周血白细胞中提取基因组DNA。通过聚合酶链反应（PCR）扩增CRYGC和CRYGD的所有外显子和侧翼内含子序列，并通过直接DNA测序筛选突变。通过 SWISS-MODEL 生成并分析野生型和突变型 γC-晶状体蛋白的结构模型。结果 CRYGC 和 CRYGD 编码区的测序显示，CRYGC 外显子 3 编码序列 (c.327C>A) 的 c.327 处存在杂合性 C>A 颠换，导致野生型半胱氨酸替换为无义密码子 (C109X)。在突变体截短的 γC-晶状体蛋白的结构模型中发现 COOH 末端的一个半希腊键基序不存在。结论 在一个患有一致常染色体显性先天性核性白内障的中国家系中检测到一种新的 CRYGC 无义突变，为该基因型与相应白内障表型之间的关系提供了明确的证据。
Purpose To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family. Methods Family history and phenotypic data were recorded, and the phenotypes were documented by slit lamp photography. The genomic DNA was extracted from peripheral blood leukocytes. All the exons and flanking intronic sequences of CRYGC and CRYGD were amplified by polymerase chain reaction (PCR) and screened for mutation by direct DNA sequencing. Structural models of the wild type and mutant γC-crystallin were generated and analyzed by SWISS-MODEL. Results Sequencing of the coding regions of CRYGC and CRYGD showed the presence of a heterozygous C>A transversion at c.327 of the coding sequence in exon 3 of CRYGC (c.327C>A), which results in the substitution of a wild type cysteine to a nonsense codon (C109X). One and a half Greek key motifs at the COOH-terminus were found to be absent in the structural model of the mutant truncated γC-crystallin. Conclusions A novel nonsense mutation in CRYGC was detected in a Chinese family with consistent autosomal dominant congenital nuclear cataract, providing clear evidence of a relationship between the genotype and the corresponding cataract phenotype.
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影响因子：
2.2
作者：
N. Robinson;K. Lampi;J. Speir;G. Kruppa;M. Easterling;A. B. Robinson
通讯作者：
N. Robinson;K. Lampi;J. Speir;G. Kruppa;M. Easterling;A. B. Robinson
影响因子：
2.2
作者：
C. Jin;K. Yao;Jin Jiang;Xiajing Tang;X. Shentu;Renyi Wu
通讯作者：
C. Jin;K. Yao;Jin Jiang;Xiajing Tang;X. Shentu;Renyi Wu
DOI：
10.1016/0097-8485(95)00028-q
发表时间：
1995-12
期刊：
Computers & chemistry
影响因子：
--
作者：
M. Crabbe;D. Goode
通讯作者：
M. Crabbe;D. Goode
DOI：
10.1073/pnas.040554397
发表时间：
2000-02-29
影响因子：
11.1
作者：
Pande, A;Pande, J;Benedek, GB
通讯作者：
Benedek, GB
影响因子：
5.3
作者：
Ren, ZX;Li, AR;Hejtmancik, JF
通讯作者：
Hejtmancik, JF