Correlation between Genetic Variants and Polymorphism of Caveolin and Sudden Unexplained Death / 法医学杂志
Journal of Forensic Medicine
;
(6): 114-119, 2017.
Article
in Chinese
| WPRIM
| ID: wpr-984912
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Coronary Artery Disease
/
Polymerase Chain Reaction
/
Exons
/
Polymorphism, Single Nucleotide
/
Caveolins
/
Death, Sudden
/
Genotype
Limits:
Humans
/
Male
Language:
Chinese
Journal:
Journal of Forensic Medicine
Year:
2017
Type:
Article
Similar
MEDLINE
...
LILACS
LIS