[Identification of a TTR gene mutation in a family with hereditary vitreous amyloidosis].
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.


CONCLUSIONS
The heterozygous Gly103Arg mutation of TTR gene may be related to the development of hereditary vitreous amyloidosis in this family.
Laboratory of Molecular Biology, Guiyang Medical University, Guizhou, Guiyang 550004, P. R. China.
Yuan
Y
Xie
Yan
Y
Zhao
Jian-jiang
JJ
Zhou
Xian
X
Wang
D028226:Amyloidosis, Familial / Q000235:genetics*; D001483:Base Sequence; D005091:Exons / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011228:Prealbumin / Q000235:genetics*
D011228:Prealbumin