Identification of a TTR gene mutation in a family with hereditary vitreous amyloidosis / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To study the disease gene in a family with hereditary vitreous amyloidosis.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>The heterozygous Gly103Arg mutation of TTR gene may be related to the development of hereditary vitreous amyloidosis in this family.</p>