1个先天性晶状体脱位家系的基因突变位点  

A gene mutation locus in a family with inherited ectopia lentis

作　　者：唐雪林[1] 彭睿 TANG Xuelin;PENG Rui(Department of Ophthalmology,West China Hospital,Sichuan University,Chengdu 610000,China)

机构地区：[1]四川大学华西医院眼科,成都610000

出　　处：《眼科学报》2018年第3期144-148,共5页Eye Science

摘　　要：目的:分析1个先天性晶状体脱位家系原晶状体原纤维蛋白1(fibrillin-1,FBN1)基因突变的情况。方法:对1个单纯性晶状体脱位家系中的25位家族成员(包括5名患者)进行眼睛及全身临床检查。从外周静脉血抽提DNA进行PCR扩增反应,并对FBN1全部65个外显子进行测序分析。结果:在5位患者的核苷酸序列中均发现FBN1基因c.1759胸腺嘧啶突变为胞嘧啶。这个点突变导致FBN1蛋白第587号的半胱氨酸被精氨酸代替。结论:c.1759胸腺嘧啶突变是导致患者晶状体脱位的FBN1基因突变位点,该结论进一步丰富了马凡综合征(Marfan syndrome,MFS)基因突变库,并有助于该家系中相关亲属的遗传咨询。Objective： To identify the genetic defects of a family with inherited ectopia lentis. Methods： Among 25 family members, 5 patients underwent general physical and full ophthalmic examinations. Genomic DNA was extracted from leukocytes of venous blood of every family member. Polymerase chain reaction（PCR） amplification and Sanger＇s sequencing of all exons of fibrillin-1（FBN1） gene were analyzed. Results： A CT mutation was identified at FBN1 nucleotide position c.1759. This mutation led to substitution of Cysteine for Arginine at condon 587. No FBN1 gene defects were found in any unaffected family member. Conclusion： We identified a mutation in FBN1. Our result expanded the mutation spectrum of FBN1 and also provided genetic counseling for the family relatives.

关 键 词：先天性晶状体脱位 FBN1基因 悬韧带 

分 类 号：R776[医药卫生—眼科]