Correlation between Genetic Variants and Polymorphism of Caveolin and Sudden Unexplained Death.
10.3969/j.issn.1004-5619.2017.02.002
- Author:
Fang Yu WU
1
;
Xin Hua TANG
2
;
Lian Lei GAI
3
;
Xiao Ping KONG
4
;
Bo HAO
1
;
Er Wen HUANG
1
;
He SHI
5
;
Li Hui SHENG
6
;
Li QUAN
1
;
Shui Ping LIU
1
;
Bin LUO
1
Author Information
1. Department of Forensic Medicine, Zhongshan Medical College, Sun Yat-sen University, Guangzhou 510080, China.
2. Dongyuan Public Security Bureau, Dongyuan 517500, China.
3. Huangpu Branch of Guangzhou Municipal Public Security Bureau, Guangzhou 510530, China.
4. Panyu Branch of Guangzhou Municipal Public Security Bureau, Guangzhou 511430, China.
5. Institute of Criminal Science and Technology, Guangzhou Municipal Public Security Bureau, Guangzhou 510030, China.
6. Institute of Criminal Science and Technology, Shenzhen Municipal Public Security Bureau, Shenzhen 518008, China.
- Publication Type:Journal Article
- Keywords:
caveolin;
death, sudden, cardiac;
forensic genetics;
forensic pathology;
gene mutation;
single nucleotide polymorphism;
sudden unexplained death
- MeSH:
Caveolins/genetics*;
Coronary Artery Disease;
Death, Sudden/etiology*;
Exons;
Genotype;
Humans;
Male;
Polymerase Chain Reaction;
Polymorphism, Single Nucleotide
- From:
Journal of Forensic Medicine
2017;33(2):114-119
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVES:To explore the genetic variation sites of caveolin （CAV） and their correlation with sudden unexplained death （SUD）.
METHODS:The blood samples were collected from SUD group （71 cases）, coronary artery disease （CAD） group （62 cases） and control group （60 cases）, respectively. The genome DNA were extracted and sequencing was performed directly by amplifying gene coding region and exon-intron splicing region of CAV1 and CAV3 using PCR. The type of heritable variation of CVA was confirmed and statistical analysis was performed.
RESULTS:A total of 4 variation sites that maybe significative were identified in SUD group, and two were newfound which were CAV1： c.45C>T （T15T） and CAV1：c.512G>A （R171H）, and two were SNP loci which were CAV1：c.246C>T （rs35242077） and CAV3：c.99C>T （rs1008642） and had significant difference （P<0.05） in allele and genotype frequencies between SUD and control groups. Forementioned variation sites were not found in CAD group.
CONCLUSIONS:The variants of CAV1 and CAV3 may be correlated with a part of SUD group.
