Pathogenic gene mutation in a Han Chinese family with hereditary vitreous amyloidosis identified by Sanger sequencing
10.13602/j.cnki.jcls.2017.03.07
- VernacularTitle:一汉族玻璃体淀粉样变性家系的TTR基因突变检测
- Author:
Peiran ZHU
;
Qiuyue WU
;
Maomao YU
;
Mingchao ZHANG
;
Mengxia NI
;
Shuaimei LIU
;
Weijun JING
;
Jing ZHANG
;
Weiwei LI
;
Jin CAO
;
Yi LI
;
Chunyan XUE
;
Xinyi XIA
- Keywords:
vitreous amyloidosis;
transthyretin;
gene mutation
- From:
Chinese Journal of Clinical Laboratory Science
2017;35(3):181-183
- CountryChina
- Language:Chinese
-
Abstract:
Objective Our purpose was to investigate the pathogenic gene mutation of a Han Chinese family with vitreous amyloidosis.Methods The 9 individuals(proband,1 affected member and 7 unaffected members) of the family were selected and their DNA was extracted from peripheral blood.The 4 exons of transthyretin(TTR) gene were amplified by polymerase chain reaction(PCR) technique.The amplified products of TTR gene were sequencing by Sanger technique.We also selected 100 unrelated healthy individual as the control group.Results By DNA sequencing,a heterozygous mutation was found in 4 of the 9 subjects from the family.The transition of adenine to cytosine(AAG ＞ ACG) was detectable in exon 2 of TTR,which changed the amino acid composition at codon 35 (Lys35Thr).This mutation did not presented in control group.Conclusion The heterozygosis mutation of TTR gene Lys35Thr should be a pathogenic mutation for the family with vitreous amyloidosis.
