1. [Novel mutation of fibrillin 1 gene cause ectopia lentis in a Chinese family].
- Author
-
Sui RF, Wei HB, Zhao JL, Hu SY, Wang B, Huang SZ, and Dong M
- Subjects
- China, Ectopia Lentis etiology, Female, Fibrillin-1, Fibrillins, Genetic Linkage, Humans, Male, Pedigree, Asian People genetics, Ectopia Lentis genetics, Microfilament Proteins genetics, Point Mutation
- Abstract
Objective: To identify the mutation gene of a Chinese family with ectopia lentis., Methods: 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., Results: 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., Conclusions: A novel mutation of FBN1 gene with Glycine to Serine change is responsible for the ectopia lentis patients in a Chinese family.
- Published
- 2004