Yu Rui, Lai Zheng, Zhou Wei, Ti Dong-Dong, Zhang Xian-Ning
Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, and the Graduate School of the Chinese Academy of Sciences, Shanghai, China.
Am J Ophthalmol. 2006 Jun;141(6):1136-8. doi: 10.1016/j.ajo.2005.12.044.
To examine the fibrillin-1 (FBN1) gene for mutations in members of a Chinese family with isolated ectopia lentis.
Clinically relevant laboratory investigation.
Family members underwent clinical examinations. Genomic DNA was extracted from leukocytes of peripheral blood from the available members and 100 controls for mutation analysis. The 65 exons of FBN1 were amplified by polymerase chain reaction and screened for mutations by a combination of denaturing high-performance liquid chromatography analysis and direct DNA sequencing.
A mutation, c.184C-->T in exon 2 of FBN1, which results in substitution of arginine by cysteine at position 62 of the fibrillin-1 protein (p.R62C) in all affected family members but in none of the unaffected individuals.
A recurrent mutation of FBN1 gene resulted in an arginine-to-cysteine residue (p.R62C), is responsible for the patients with isolated ectopia lentis in a Chinese family.
检测一个中国孤立性晶状体异位家系成员的原纤蛋白-1（FBN1）基因是否存在突变。
临床相关实验室研究。
对家系成员进行临床检查。从可用成员的外周血白细胞以及100名对照者中提取基因组DNA进行突变分析。通过聚合酶链反应扩增FBN1的65个外显子，并结合变性高效液相色谱分析和直接DNA测序筛选突变。
在FBN1基因第2外显子中发现一个突变，即c.184C→T，该突变导致所有患病家系成员的原纤蛋白-1蛋白第62位的精氨酸被半胱氨酸替代（p.R62C），而未患病个体均无此突变。
FBN1基因的一个反复出现的突变导致精氨酸变为半胱氨酸残基（p.R62C），这是一个中国家系中孤立性晶状体异位患者的病因。
