title: Association between a point mutation at the -743-bp region of the transthyretin (TTR) gene and familial vitreous amyloidosis.
abstract: The aim of this study was to identify changes in the base sequence of the upstream regulatory region of the transthyretin (TTR) gene. Whole-blood DNA was extracted from ten subjects belonging to a family with familial amyloidosis vitreoretinopathy; the upstream regulatory sequence was amplified by polymerase chain reaction, detected by gel electrophoresis, and sequenced. The DNA sequence of the upstream regulatory region of the TTR gene was successfully sequenced, and a point mutation (-743A→T) was identified in six of the ten blood samples: four patients and two family members without disease incidence. Therefore, a point mutation was identified in the upstream regulatory region of the TTR gene in a Han Chinese family with familial vitreous amyloidosis.
authors.affiliation: Department of Ophthalmology Affiliated Hospital of Zunyi Medical College, Zui Yi, China.
authors.forename: X M
authors.initials: XM
authors.lastname: Nie
authors.affiliation: Department of Ophthalmology Affiliated Hospital of Zunyi Medical College, Zui Yi, China.
authors.forename: S J
authors.initials: SJ
authors.lastname: Cai
authors.affiliation: Department of Ophthalmology Affiliated Hospital of Zunyi Medical College, Zui Yi, China.
authors.forename: B
authors.initials: B
authors.lastname: Xie
authors.affiliation: Department of Ophthalmology Affiliated Hospital of Zunyi Medical College, Zui Yi, China.
authors.forename: X W
authors.initials: XW
authors.lastname: Chen
authors.affiliation: Department of Ophthalmology Affiliated Hospital of Zunyi Medical College, Zui Yi, China.
authors.forename: M
authors.initials: M
authors.lastname: Jiang
mesh_terms: D000293:Adolescent; D000328:Adult; D028226:Amyloidosis, Familial / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D011228:Prealbumin / Q000235:genetics*; D055815:Young Adult
chemical_list: D011228:Prealbumin