Sui Rui-fang, Wei Hong-bin, Zhao Jia-liang, Hu Shao-yi, Wang Bo, Huang Shang-zhi, Dong Ming
Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Eye Research Center of Chinese Academy of Medical Sciences, Beijing 100730, China.
Zhonghua Yan Ke Za Zhi. 2004 Dec;40(12):828-31.
To identify the mutation gene of a Chinese family with ectopia lentis.
Clinical observation and pedigree analysis were undertaken in a family with ectopia lentis. Venous blood was drawn from 7 affected and 3 unaffected subjects. Genomic DNA was extracted. Linkage to the fibrillin 1 (FBN1) locus was not excluded. Mutation of this gene was screened by PCR of FBN1 exons and direct sequencing. PCR and restrictive endonuclease digestion were applied for population study.
A missense mutation G640A in exon six of FBN1 gene was identified in affected patients of this Chinese family. The correspond amino acid change was Gly214Ser. Restrictive endonuclease site Eag I was eliminated. This mutation was not found in unaffected family members of this family nor it was found among 50 unrelated normal controls.
A novel mutation of FBN1 gene with Glycine to Serine change is responsible for the ectopia lentis patients in a Chinese family.
鉴定一个患有晶状体异位的中国家系的突变基因。
对一个患有晶状体异位的家系进行临床观察和系谱分析。从7名患病和3名未患病的受试者中采集静脉血。提取基因组DNA。不排除与原纤维蛋白1（FBN1）基因座的连锁关系。通过FBN1外显子的PCR和直接测序筛选该基因的突变。采用PCR和限制性内切酶消化进行群体研究。
在这个中国家系的患病患者中鉴定出FBN1基因第六外显子中的一个错义突变G640A。相应的氨基酸变化为Gly214Ser。限制性内切酶位点Eag I消失。在该家系的未患病家庭成员中未发现此突变，在50名无关正常对照中也未发现。
FBN1基因的一个导致甘氨酸变为丝氨酸的新突变是一个中国家系中晶状体异位患者的病因。
