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요약정보
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
Resource Type
Academic Journal
Authors
唐雪林
;
彭睿
;
TANG Xuelin
;
PENG Rui
Source
眼科学报 / Eye Science
. 33(3):144-148
Subject
先天性晶状体脱位
FBN1基因
悬韧带
Language
Chinese
ISSN
1000-4432
Online Access
Find it @ DONGA
초록
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.
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