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  • Title: [Identification of a TTR gene mutation in a family with hereditary vitreous amyloidosis].
    Author: Xie Y, Zhao Y, Zhou JJ, Wang X.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Feb; 29(1):13-5. PubMed ID: 22311483.
    Abstract:
    OBJECTIVE: To study the disease gene in a family with hereditary vitreous amyloidosis. METHODS: A family with hereditary vitreous amyloidosis was investigated. Blood samples were collected from 4 members of this family including 3 patients and 1 asymptomatic individual. Genomic DNA was extracted from peripheral blood sample and subjected to amplification of 4 exons of transthyretin (TTR) gene. The PCR products were purified and subjected to direct sequencing. A total of 150 unrelated individuals were used as controls. RESULTS: A heterozygous mutation G to C at codon 103 in exon 3 of TTR gene (Gly103Arg) was detected in all 4 members of the family but not in the unrelated controls. CONCLUSION: The heterozygous Gly103Arg mutation of TTR gene may be related to the development of hereditary vitreous amyloidosis in this family.
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