Liang Chen, Fan Wei, Wu Sisi, Liu Yi
Department of Ophthalmology, West-China Hospital, Chengdu, China.
Mol Vis. 2011;17:3481-5. Epub 2011 Dec 29.
To identify the genetic defect in a Chinese family with autosomal dominant inherited ectopia lentis.
twenty-one family members, including seven patients underwent general physical and fully ophthalmic examinations. Genomic DNA was extracted from leukocytes of venous blood of these individuals in the family. Polymerase chain reaction (PCR) amplification and direct sequencing of all 65 coding exons of the fibrillin-1 gene (FBN1) were analyzed.
Mutation screening in FBN1 identified a T>C transition at nucleotide position c,1759 leading to substitution of Cysteine for Arginine at codon 587 (C587R). This nucleotide substitution was not seen in any unaffected member of the family.
We detected a novel mutation in FBN1. Our result expands the mutation spectrum of FBN1 and help in the study of the molecular pathogenesis of Marfan syndrome and Marfan-related diseases.
确定一个常染色体显性遗传性晶状体异位的中国家系中的基因缺陷。
21名家族成员，包括7名患者，接受了全身体格检查和全面的眼科检查。从该家族中这些个体的静脉血白细胞中提取基因组DNA。对原纤蛋白-1基因（FBN1）的所有65个编码外显子进行聚合酶链反应（PCR）扩增和直接测序分析。
FBN1的突变筛查在核苷酸位置c.1759处发现了一个T>C转换，导致密码子587处的精氨酸被半胱氨酸取代（C587R）。该核苷酸替代在该家族的任何未受影响成员中均未出现。
我们在FBN1中检测到一个新的突变。我们的结果扩展了FBN1的突变谱，并有助于研究马凡综合征和马凡相关疾病的分子发病机制。
