基因型
生物
遗传学
外显子
SNP公司
遗传变异
冠状动脉疾病
猝死
等位基因
多态性(计算机科学)
基因
单核苷酸多态性
内科学
医学
作者
Fangyu Wu,X H Tang,L L Gai,Xiaotong Kong,Bo Hao,Erwen Huang,Shi H,L H Sheng,Li Quan,S P Liu,Baoming Luo
出处
期刊:PubMed
日期:2017-04-01
卷期号:33 (2): 114-119
标识
DOI:10.3969/j.issn.1004-5619.2017.02.002
摘要
To explore the genetic variation sites of caveolin (CAV) and their correlation with sudden unexplained death (SUD).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.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.The variants of CAV1 and CAV3 may be correlated with a part of SUD group.
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