Identification of a TTR gene mutation in a family with hereditary vitreous amyloidosis.
- VernacularTitle:一个遗传性玻璃体淀粉样变性家系TTR基因的突变检测
- Author:
Yuan XIE
1
;
Yan ZHAO
;
Jian-jiang ZHOU
;
Xian WANG
Author Information
- Publication Type:Journal Article
- MeSH: Amyloidosis, Familial; genetics; Base Sequence; Exons; genetics; Female; Heterozygote; Humans; Male; Molecular Sequence Data; Mutation; Pedigree; Prealbumin; genetics
- From: Chinese Journal of Medical Genetics 2012;29(1):13-15
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the disease gene in a family with hereditary vitreous amyloidosis.
METHODSA 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.
RESULTSA 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.
CONCLUSIONThe heterozygous Gly103Arg mutation of TTR gene may be related to the development of hereditary vitreous amyloidosis in this family.
