Correlation between Genetic Variants and Polymorphism of Caveolin and Sudden Unexplained Death
10.3969/j.issn.1004-5619.2017.02.002
- VernacularTitle:窖蛋白基因变异及多态性与不明原因猝死的相关性
- Author:
Fangyu WU
;
Xinhua TANG
;
Lianlei GAI
;
Xiaoping KONG
;
Bo HAO
;
Erwen HUANG
;
He SHI
;
Lihui SHENG
;
Li QUAN
;
Shuiping LIU
;
Bin LUO
- Keywords:
forensic pathology;
forensic genetics;
death;
sudden;
cardiac;
sudden unexplained death;
cave-olin;
gene m utation;
single nucleotide polym orphism
- From:Journal of Forensic Medicine
2017;33(2):114-119,128
- CountryChina
- Language:Chinese
-
Abstract:
Objective T o explore the genetic variation sites of caveolin (C A V ) and their correlation w ith sudden unexplained death (SU D ).Methods The blood sam ples w ere collected from SU D group (71 cases), coronary artery disease (C A D ) group (62 cases) and control group (60 cases), respectively. T he genom e D N A w ere extracted and sequencing w as perform ed directly by am plifying gene coding region and exon-intron splicing region of CAV1 and CAV3 using PC R . T he type of heritable variation of CVA w as con-firm ed and statistical analysis w as perform ed. Results A total of 4 variation sites that m aybe significa-tive w ere identified in SU D group, and tw o w ere new found w hich w ere CAV1: c.45C>T (T 15T ) and CAV1:c.512G>A (R 171H ), and tw o w ere SN P loci w hich w ere CAV1:c.246C>T (rs35242077) and CAV3:c.99C>T (rs1008642) and had significant difference (P<0.05) in allele and genotype frequencies betw een SU D and control groups. Forem entioned variation sites w ere not found in C A D group. Conclu-sion T he variants of CAV1 and CAV3 m ay be correlated w ith a part of SU D group.
