Abstract | BACKGROUND: METHODS: Two patients and one non-carrier in the family underwent complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA was extracted from leukocytes of venous blood of these individuals in the family as well as 50 healthy normal controls. Polymerase chain reaction amplification and direct sequencing of all 65 coding exons of fibrillin-1 gene were analyzed. RESULTS: CONCLUSIONS: These results expand the mutation spectrum of fibrillin-1 gene and help in the study of the molecular pathogenesis of Marfan syndrome, indicating that mutations occurring in the 3' end of fibrillin-1 gene may play an independent functional role in the pathogenesis of Marfan syndrome.
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Authors | Ling-gen Gao, Lin Zhang, Lei Song, Hu Wang, Qian Chang, Yong-bo Wu, Ru-tai Hui, Xian-liang Zhou |
Journal | Chinese medical journal
(Chin Med J (Engl))
Vol. 123
Issue 20
Pg. 2874-8
(Oct 2010)
ISSN: 2542-5641 [Electronic] China |
PMID | 21034599
(Publication Type: Journal Article)
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Chemical References |
- FBN1 protein, human
- Fibrillin-1
- Fibrillins
- Microfilament Proteins
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Topics |
- Adult
- Female
- Fibrillin-1
- Fibrillins
- Genotype
- Humans
- Male
- Marfan Syndrome
(etiology, genetics)
- Microfilament Proteins
(genetics)
- Middle Aged
- Mutation
- Phenotype
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