miR-27a基因多态性与先天小耳畸形的相关性研究-东南大学学报医学版

miR-27a基因多态性与先天小耳畸形的相关性研究

单位：1. 南京中医药大学, 江苏南京 210029;
2. 江苏省中医院整形外科, 江苏南京 210029;
3. 东南大学公共卫生学院环境医学工程教育部重点实验室, 江苏南京 210009

分类号：R764.7

出版年·卷·期（页码）：2015·34·第六期（897-902）

摘要：

目的:探讨miR-27a基因编码区域单核苷酸多态位点rs895819与先天小耳畸形发病风险的关系.方法:收集2012年至2014年南京地区先天小耳畸形患者180例,对照组141例来自同期健康体检者.采用多重PCR和多重LDR扩增方法进行基因分型,采用卡方检验进行miR-27a rs895819单核苷酸多态性与先天小耳畸形关联分析.结果:病例组中miR-27a rs895819基因TT型为53%,CT型为40%,CC型为7%;对照组中miR-27a rs895819基因TT型为52%,CT型为41%,CC型为6%.两组基因型频率分布差异无统计学意义(P>0.05).进一步进行不同性别分层分析发现,不同性别中miR-27a rs89581基因型频率分布差异无统计学意义(P>0.05).结论:miR-27a多态性位点rs895819可能与先天小耳畸形的遗传易感性无关.

Objective: To explore the relationship between miR-27a polymorphism and microtia.Methods: 180 microtia patients and 141 controls were collected from 2012 to 2014. The genotyping were examined by multiple PCR and multiple LDR method. Frequencies and allele distribution of miR-27a polymorphism in the cases and the controls were compared by Chi-square test. Results: The miR-27a rs895819 genotype of TT was 53%, CT was 40%, CC was 7% in cases group, and genotype of TT was 52%, CT was 41%, CC was 6% in control group, respectively. The genotype frequency distribution of miR-27a rs895819 polymorphism in the cases and the controls had no statistically significant difference (P>0.05). Further gender-stratified analysis showed that miR-27a rs895819 polymorphism genotype frequencies distribution differences had no statistical significance in different gender (P>0.05).Conclusion: There are no association between miR-27a polymorphism and microtia.

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