Abstract | PURPOSE: DESIGN: Clinically relevant laboratory investigation. METHODS: Family members underwent clinical examinations. Genomic DNA was extracted from leukocytes of peripheral blood from the available members and 100 controls for mutation analysis. The 65 exons of FBN1 were amplified by polymerase chain reaction and screened for mutations by a combination of denaturing high-performance liquid chromatography analysis and direct DNA sequencing. RESULTS: A mutation, c.184C-->T in exon 2 of FBN1, which results in substitution of arginine by cysteine at position 62 of the fibrillin-1 protein (p.R62C) in all affected family members but in none of the unaffected individuals. CONCLUSIONS:
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Authors | Rui Yu, Zheng Lai, Wei Zhou, Dong-Dong Ti, Xian-Ning Zhang |
Journal | American journal of ophthalmology
(Am J Ophthalmol)
Vol. 141
Issue 6
Pg. 1136-8
(Jun 2006)
ISSN: 0002-9394 [Print] United States |
PMID | 16765689
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- FBN1 protein, human
- Fibrillin-1
- Fibrillins
- Microfilament Proteins
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Topics |
- Adult
- Asian People
(genetics)
- China
(epidemiology)
- Chromatography, High Pressure Liquid
- Ectopia Lentis
(ethnology, genetics)
- Exons
(genetics)
- Female
- Fibrillin-1
- Fibrillins
- Humans
- Male
- Microfilament Proteins
(genetics)
- Pedigree
- Point Mutation
- Polymerase Chain Reaction
- Recurrence
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